Linked Data
ClinVar Variation Id:
300953
ClinVar RCV Id:
RCV000264364
dbSNP Id:
rs879619415
gnomAD v2:
10-78646598-AAAC-A
gnomAD v3:
10-76886840-AAAC-A
gnomAD v4:
10-76886840-AAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.76886855_76886857del , CM000672.2:g.76886855_76886857del | GRCh38 |
| NC_000010.10:g.78646613_78646615del , CM000672.1:g.78646613_78646615del | GRCh37 |
| NC_000010.9:g.78316619_78316621del | NCBI36 |
| NG_012270.1:g.755977_755979del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707137.1:c.3229+448_3229+450del | ||
| ENST00000286627.10:c.*423_*425del | ENSP00000286627.5:n.*423_*425del | |
| ENST00000286628.14:c.*423_*425del MANE Select | ENSP00000286628.8:n.*423_*425del | |
| ENST00000372403.9:c.3398+448_3398+450del | ENSP00000361480.4:n.3398+448_3398+450del | |
| ENST00000372408.7:c.3407+448_3407+450del | ENSP00000361485.3:n.3407+448_3407+450del | |
| ENST00000372421.10:c.3526+448_3526+450del | ||
| ENST00000372437.6:c.3518+448_3518+450del | ENSP00000361514.2:n.3518+448_3518+450del | |
| ENST00000372440.6:c.3521+448_3521+450del | ENSP00000361517.2:n.3521+448_3521+450del | |
| ENST00000372443.6:c.3605+448_3605+450del | ENSP00000361520.2:n.3605+448_3605+450del | |
| ENST00000404771.8:c.3686+448_3686+450del | ENSP00000385717.3:n.3686+448_3686+450del | |
| ENST00000404857.6:c.3404+448_3404+450del | ENSP00000385806.3:n.3404+448_3404+450del | |
| ENST00000434208.6:c.3629+418_3629+420del | ENSP00000402150.2:n.3629+418_3629+420del | |
| ENST00000457953.6:c.3686+448_3686+450del | ENSP00000396608.2:n.3686+448_3686+450del | |
| ENST00000468471.2:n.368+448_368+450del | ||
| ENST00000604624.6:c.3107+448_3107+450del | ENSP00000473714.2:n.3107+448_3107+450del | |
| ENST00000638203.1:c.3512+448_3512+450del | ENSP00000491123.1:n.3512+448_3512+450del | |
| ENST00000638223.1:c.3614+448_3614+450del | ENSP00000492492.1:n.3614+448_3614+450del | |
| ENST00000638252.1:c.3335+448_3335+450del | ENSP00000492178.1:n.3335+448_3335+450del | |
| ENST00000638283.1:c.3314+448_3314+450del | ENSP00000491300.1:n.3314+448_3314+450del | |
| ENST00000638306.1:c.3512+448_3512+450del | ENSP00000491008.1:n.3512+448_3512+450del | |
| ENST00000638351.1:c.3521+448_3521+450del | ENSP00000491156.1:n.3521+448_3521+450del | |
| ENST00000638512.1:n.341+448_341+450del | ||
| ENST00000638606.1:c.3524+448_3524+450del | ENSP00000491981.1:n.3524+448_3524+450del | |
| ENST00000638632.1:n.8323_8325del | ||
| ENST00000638751.1:c.3385_3387del | ENSP00000492172.1:n.3385_3387del | |
| ENST00000638754.1:c.3486_3488del | ENSP00000491166.1:n.3486_3488del | |
| ENST00000638848.1:c.3698+448_3698+450del | ENSP00000492414.1:n.3698+448_3698+450del | |
| ENST00000638895.1:c.3489+448_3489+450del | ||
| ENST00000638991.1:c.3521+448_3521+450del | ENSP00000490978.1:n.3521+448_3521+450del | |
| ENST00000639069.1:n.3229+448_3229+450del | ||
| ENST00000639090.1:c.3512+448_3512+450del | ENSP00000491673.1:n.3512+448_3512+450del | |
| ENST00000639205.1:c.3407+448_3407+450del | ENSP00000492718.1:n.3407+448_3407+450del | |
| ENST00000639344.1:c.3373+448_3373+450del | ||
| ENST00000639370.1:c.3540+448_3540+450del | ||
| ENST00000639406.1:c.*423_*425del | ENSP00000491732.1:n.*423_*425del | |
| ENST00000639483.1:c.*2208+448_*2208+450del | ENSP00000492406.1:n.*2208+448_*2208+450del | |
| ENST00000639486.1:c.3512+448_3512+450del | ENSP00000492005.1:n.3512+448_3512+450del | |
| ENST00000639489.1:c.3524+448_3524+450del | ENSP00000491927.1:n.3524+448_3524+450del | |
| ENST00000639498.1:c.3407+448_3407+450del | ENSP00000492835.1:n.3407+448_3407+450del | |
| ENST00000639544.1:c.3686+448_3686+450del | ENSP00000492075.1:n.3686+448_3686+450del | |
| ENST00000639591.1:c.3557+448_3557+450del | ENSP00000492793.1:n.3557+448_3557+450del | |
| ENST00000639601.1:c.3512+448_3512+450del | ENSP00000492806.1:n.3512+448_3512+450del | |
| ENST00000639657.1:n.3595+448_3595+450del | ||
| ENST00000639691.1:c.2854+448_2854+450del | ||
| ENST00000639716.1:c.2151_2153del | ENSP00000491131.1:n.2151_2153del | |
| ENST00000639730.1:c.2878+448_2878+450del | ||
| ENST00000639851.1:n.3736+448_3736+450del | ||
| ENST00000639913.1:c.3602+448_3602+450del | ENSP00000492241.1:n.3602+448_3602+450del | |
| ENST00000639968.1:c.*2530+448_*2530+450del | ENSP00000491723.1:n.*2530+448_*2530+450del | |
| ENST00000639995.1:c.3168+448_3168+450del | ENSP00000491902.1:n.3168+448_3168+450del | |
| ENST00000640029.1:c.3512+448_3512+450del | ENSP00000491463.1:n.3512+448_3512+450del | |
| ENST00000640093.1:c.3409+448_3409+450del | ENSP00000492224.1:n.3409+448_3409+450del | |
| ENST00000640141.1:c.*423_*425del | ENSP00000491418.1:n.*423_*425del | |
| ENST00000640182.1:c.3524+448_3524+450del | ENSP00000492510.1:n.3524+448_3524+450del | |
| ENST00000640523.1:c.3707+448_3707+450del | ENSP00000491795.1:n.3707+448_3707+450del | |
| ENST00000640570.1:n.3216+448_3216+450del | ||
| ENST00000640605.1:c.3533+448_3533+450del | ENSP00000491435.1:n.3533+448_3533+450del | |
| ENST00000640626.1:c.3164+448_3164+450del | ENSP00000491545.1:n.3164+448_3164+450del | |
| ENST00000640807.1:c.3362+448_3362+450del | ENSP00000491555.1:n.3362+448_3362+450del | |
| ENST00000640934.1:c.3503+448_3503+450del | ENSP00000491539.1:n.3503+448_3503+450del | |
| ENST00000640969.1:c.*423_*425del | ENSP00000492200.1:n.*423_*425del | |
| ENST00000286627.9:c.*423_*425del | ENSP00000286627.5:n.*423_*425del | |
| ENST00000286628.12:c.4134_4136del | ENSP00000286628.8:n.4134_4136del | |
| ENST00000354353.9:c.*423_*425del | ENSP00000346321.6:n.*423_*425del | |
| ENST00000372403.8:c.3364+448_3364+450del | ||
| ENST00000372408.6:c.3323+448_3323+450del | ENSP00000361485.2:n.3323+448_3323+450del | |
| ENST00000372421.9:c.3432+448_3432+450del | ||
| ENST00000372437.5:c.3491+448_3491+450del | ENSP00000361514.1:n.3491+448_3491+450del | |
| ENST00000372440.5:c.3512+448_3512+450del | ENSP00000361517.1:n.3512+448_3512+450del | |
| ENST00000372443.5:c.3593+448_3593+450del | ENSP00000361520.1:n.3593+448_3593+450del | |
| ENST00000404771.7:c.3686+448_3686+450del | ENSP00000385717.3:n.3686+448_3686+450del | |
| ENST00000404857.5:c.3020+448_3020+450del | ENSP00000385806.2:n.3020+448_3020+450del | |
| ENST00000406533.7:c.*423_*425del | ENSP00000385552.4:n.*423_*425del | |
| ENST00000434208.5:c.2664+418_2664+420del | ||
| ENST00000457953.5:c.3608+448_3608+450del | ENSP00000396608.1:n.3608+448_3608+450del | |
| ENST00000604624.5:c.3107+448_3107+450del | ENSP00000473714.1:n.3107+448_3107+450del | |
| NM_001014797.2:c.3524+448_3524+450del | NP_001014797.1:n.3524+448_3524+450del | |
| NM_001161352.1:c.*423_*425del | NP_001154824.1:n.*423_*425del | |
| NM_001161353.1:c.*423_*425del | NP_001154825.1:n.*423_*425del | |
| NM_001271518.1:c.3362+448_3362+450del | NP_001258447.1:n.3362+448_3362+450del | |
| NM_001271519.1:c.*423_*425del | NP_001258448.1:n.*423_*425del | |
| NM_002247.3:c.*423_*425del | NP_002238.2:n.*423_*425del | |
| XM_005269776.2:c.3593+448_3593+450del | XP_005269833.1:n.3593+448_3593+450del | |
| XM_005269778.1:c.3698+448_3698+450del | XP_005269835.1:n.3698+448_3698+450del | |
| XM_005269781.1:c.3686+448_3686+450del | XP_005269838.1:n.3686+448_3686+450del | |
| XM_005269787.2:c.3512+448_3512+450del | XP_005269844.1:n.3512+448_3512+450del | |
| XM_005269789.1:c.3605+448_3605+450del | XP_005269846.1:n.3605+448_3605+450del | |
| XM_005269792.1:c.3599+448_3599+450del | XP_005269849.1:n.3599+448_3599+450del | |
| XM_005269796.1:c.3512+448_3512+450del | XP_005269853.1:n.3512+448_3512+450del | |
| XM_005269797.1:c.3512+448_3512+450del | XP_005269854.1:n.3512+448_3512+450del | |
| XM_006717826.1:c.*423_*425del | XP_006717889.1:n.*423_*425del | |
| XM_011539773.1:c.3830+448_3830+450del | XP_011538075.1:n.3830+448_3830+450del | |
| XM_011539774.1:c.*423_*425del | XP_011538076.1:n.*423_*425del | |
| XM_011539775.1:c.3818+448_3818+450del | XP_011538077.1:n.3818+448_3818+450del | |
| XM_011539776.1:c.3818+448_3818+450del | XP_011538078.1:n.3818+448_3818+450del | |
| XM_011539777.1:c.*423_*425del | XP_011538079.1:n.*423_*425del | |
| XM_011539778.1:c.*423_*425del | XP_011538080.1:n.*423_*425del | |
| XM_011539779.1:c.*423_*425del | XP_011538081.1:n.*423_*425del | |
| XM_011539780.1:c.3698+448_3698+450del | XP_011538082.1:n.3698+448_3698+450del | |
| XM_011539781.1:c.3656+448_3656+450del | XP_011538083.1:n.3656+448_3656+450del | |
| XM_011539782.1:c.*423_*425del | XP_011538084.1:n.*423_*425del | |
| XM_011539783.1:c.*423_*425del | XP_011538085.1:n.*423_*425del | |
| XM_011539785.1:c.3602+448_3602+450del | XP_011538087.1:n.3602+448_3602+450del | |
| NM_001322829.1:c.3521+448_3521+450del | NP_001309758.1:n.3521+448_3521+450del | |
| NM_001322830.1:c.3614+448_3614+450del | NP_001309759.1:n.3614+448_3614+450del | |
| NM_001322832.1:c.3512+448_3512+450del | NP_001309761.1:n.3512+448_3512+450del | |
| NM_001322835.1:c.3605+448_3605+450del | NP_001309764.1:n.3605+448_3605+450del | |
| NM_001322836.1:c.*423_*425del | NP_001309765.1:n.*423_*425del | |
| NM_001322837.1:c.*423_*425del | NP_001309766.1:n.*423_*425del | |
| NM_001322838.1:c.3059+448_3059+450del | NP_001309767.1:n.3059+448_3059+450del | |
| XM_005269776.4:c.3593+448_3593+450del | XP_005269833.1:n.3593+448_3593+450del | |
| XM_005269778.2:c.3698+448_3698+450del | XP_005269835.1:n.3698+448_3698+450del | |
| XM_005269781.2:c.3686+448_3686+450del | XP_005269838.1:n.3686+448_3686+450del | |
| XM_005269787.4:c.3512+448_3512+450del | XP_005269844.1:n.3512+448_3512+450del | |
| XM_005269789.2:c.3605+448_3605+450del | XP_005269846.1:n.3605+448_3605+450del | |
| XM_005269792.2:c.3599+448_3599+450del | XP_005269849.1:n.3599+448_3599+450del | |
| XM_005269796.2:c.3512+448_3512+450del | XP_005269853.1:n.3512+448_3512+450del | |
| XM_006717826.2:c.*423_*425del | XP_006717889.1:n.*423_*425del | |
| XM_011539773.2:c.3830+448_3830+450del | XP_011538075.1:n.3830+448_3830+450del | |
| XM_011539774.2:c.*423_*425del | XP_011538076.1:n.*423_*425del | |
| XM_011539775.2:c.3818+448_3818+450del | XP_011538077.1:n.3818+448_3818+450del | |
| XM_011539777.2:c.*423_*425del | XP_011538079.1:n.*423_*425del | |
| XM_011539778.2:c.*423_*425del | XP_011538080.1:n.*423_*425del | |
| XM_011539779.2:c.*423_*425del | XP_011538081.1:n.*423_*425del | |
| XM_011539780.2:c.3698+448_3698+450del | XP_011538082.1:n.3698+448_3698+450del | |
| XM_011539781.3:c.3656+448_3656+450del | XP_011538083.1:n.3656+448_3656+450del | |
| XM_011539782.2:c.*423_*425del | XP_011538084.1:n.*423_*425del | |
| XM_011539783.2:c.*423_*425del | XP_011538085.1:n.*423_*425del | |
| XM_011539785.2:c.3602+448_3602+450del | XP_011538087.1:n.3602+448_3602+450del | |
| XM_017016207.2:c.3911+448_3911+450del | XP_016871696.1:n.3911+448_3911+450del | |
| XM_017016208.2:c.3911+448_3911+450del | XP_016871697.1:n.3911+448_3911+450del | |
| XM_017016209.2:c.*423_*425del | XP_016871698.1:n.*423_*425del | |
| XM_017016210.2:c.3830+448_3830+450del | XP_016871699.1:n.3830+448_3830+450del | |
| XM_017016211.2:c.3743+448_3743+450del | XP_016871700.1:n.3743+448_3743+450del | |
| XM_017016212.2:c.3737+448_3737+450del | XP_016871701.1:n.3737+448_3737+450del | |
| XM_017016213.2:c.3731+448_3731+450del | XP_016871702.1:n.3731+448_3731+450del | |
| XM_017016214.2:c.*423_*425del | XP_016871703.1:n.*423_*425del | |
| XM_017016215.2:c.*423_*425del | XP_016871704.1:n.*423_*425del | |
| XM_017016217.1:c.3644+448_3644+450del | XP_016871706.1:n.3644+448_3644+450del | |
| XM_017016218.1:c.*423_*425del | XP_016871707.1:n.*423_*425del | |
| XM_017016222.2:c.3512+448_3512+450del | XP_016871711.2:n.3512+448_3512+450del | |
| XM_017016223.1:c.3059+448_3059+450del | XP_016871712.1:n.3059+448_3059+450del | |
| XM_024447984.1:c.3686+448_3686+450del | XP_024303752.1:n.3686+448_3686+450del | |
| XM_024447985.1:c.3524+448_3524+450del | XP_024303753.1:n.3524+448_3524+450del | |
| XM_024447986.1:c.*423_*425del | XP_024303754.1:n.*423_*425del | |
| XM_024447987.1:c.3686+448_3686+450del | XP_024303755.1:n.3686+448_3686+450del | |
| XM_024447988.1:c.3524+448_3524+450del | XP_024303756.1:n.3524+448_3524+450del | |
| XM_024447989.1:c.3524+448_3524+450del | XP_024303757.1:n.3524+448_3524+450del | |
| XM_024447990.1:c.3512+448_3512+450del | XP_024303758.1:n.3512+448_3512+450del | |
| NM_001161352.2:c.*423_*425del MANE Select | NP_001154824.1:n.*423_*425del | |
| NM_001014797.3:c.3524+448_3524+450del | NP_001014797.1:n.3524+448_3524+450del | |
| NM_001161353.2:c.*423_*425del | NP_001154825.1:n.*423_*425del | |
| NM_001271518.2:c.3362+448_3362+450del | NP_001258447.1:n.3362+448_3362+450del | |
| NM_001271519.2:c.*423_*425del | NP_001258448.1:n.*423_*425del | |
| NM_001322829.2:c.3521+448_3521+450del | NP_001309758.1:n.3521+448_3521+450del | |
| NM_001322830.2:c.3614+448_3614+450del | NP_001309759.1:n.3614+448_3614+450del | |
| NM_001322832.2:c.3512+448_3512+450del | NP_001309761.1:n.3512+448_3512+450del | |
| NM_001322835.2:c.3605+448_3605+450del | NP_001309764.1:n.3605+448_3605+450del | |
| NM_001322836.2:c.*423_*425del | NP_001309765.1:n.*423_*425del | |
| NM_001322837.2:c.*423_*425del | NP_001309766.1:n.*423_*425del | |
| NM_002247.4:c.*423_*425del | NP_002238.2:n.*423_*425del | |
| NM_001322838.2:c.3059+448_3059+450del | NP_001309767.1:n.3059+448_3059+450del |