Linked Data
dbSNP Id:
rs1423283235
gnomAD v2:
9-140712907-CCT-C
gnomAD v3:
9-137818455-CCT-C
gnomAD v4:
9-137818455-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137818456_137818457del , CM000671.2:g.137818456_137818457del | GRCh38 |
| NC_000009.11:g.140712908_140712909del , CM000671.1:g.140712908_140712909del | GRCh37 |
| NC_000009.10:g.139832729_139832730del | NCBI36 |
| NG_011776.1:g.204465_204466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3540+318_3540+319del MANE Select | ENSP00000417980.1:n.3540+318_3540+319del | |
| ENST00000636526.1:n.26+318_26+319del | ||
| ENST00000637161.1:c.3447+318_3447+319del | ENSP00000490328.1:n.3447+318_3447+319del | |
| ENST00000637261.1:c.4114+318_4114+319del | ENSP00000490815.1:n.4114+318_4114+319del | |
| ENST00000637748.1:n.521+318_521+319del | ||
| ENST00000637891.1:c.1614+318_1614+319del | ENSP00000490907.1:n.1614+318_1614+319del | |
| ENST00000460843.5:c.3540+318_3540+319del | ENSP00000417980.1:n.3540+318_3540+319del | |
| ENST00000462942.3:c.2397+318_2397+319del | ENSP00000436107.1:n.2397+318_2397+319del | |
| ENST00000475564.5:n.1264+318_1264+319del | ||
| ENST00000494249.5:n.893+318_893+319del | ||
| NM_024757.4:c.3540+318_3540+319del | NP_079033.4:n.3540+318_3540+319del | |
| XM_005266105.3:c.3531+318_3531+319del | XP_005266162.1:n.3531+318_3531+319del | |
| XM_005266110.1:c.3447+318_3447+319del | XP_005266167.1:n.3447+318_3447+319del | |
| XM_006717288.2:c.3522+318_3522+319del | XP_006717351.1:n.3522+318_3522+319del | |
| XM_011519021.1:c.3549+318_3549+319del | XP_011517323.1:n.3549+318_3549+319del | |
| XM_011519022.1:c.3546+318_3546+319del | XP_011517324.1:n.3546+318_3546+319del | |
| XM_011519023.1:c.3528+318_3528+319del | XP_011517325.1:n.3528+318_3528+319del | |
| XM_011519024.1:c.3471+318_3471+319del | XP_011517326.1:n.3471+318_3471+319del | |
| XM_011519025.1:c.3447+318_3447+319del | XP_011517327.1:n.3447+318_3447+319del | |
| XM_011519026.1:c.3405+318_3405+319del | XP_011517328.1:n.3405+318_3405+319del | |
| XM_011519029.1:c.1971+318_1971+319del | XP_011517331.1:n.1971+318_1971+319del | |
| XM_011519030.1:c.1323+318_1323+319del | XP_011517332.1:n.1323+318_1323+319del | |
| XM_011519031.1:c.1110+318_1110+319del | XP_011517333.1:n.1110+318_1110+319del | |
| XM_011519032.1:c.1110+318_1110+319del | XP_011517334.1:n.1110+318_1110+319del | |
| XM_011519033.1:c.3384+318_3384+319del | XP_011517335.1:n.3384+318_3384+319del | |
| XR_930459.1:n.5297-3895_5297-3894del | ||
| NM_001354263.1:c.3519+318_3519+319del | NP_001341192.1:n.3519+318_3519+319del | |
| XM_005266105.5:c.3531+318_3531+319del | XP_005266162.1:n.3531+318_3531+319del | |
| XM_011519021.3:c.3549+318_3549+319del | XP_011517323.1:n.3549+318_3549+319del | |
| XM_011519022.3:c.3546+318_3546+319del | XP_011517324.1:n.3546+318_3546+319del | |
| XM_011519023.3:c.3528+318_3528+319del | XP_011517325.1:n.3528+318_3528+319del | |
| XM_011519029.3:c.1971+318_1971+319del | XP_011517331.1:n.1971+318_1971+319del | |
| XM_011519030.3:c.1323+318_1323+319del | XP_011517332.1:n.1323+318_1323+319del | |
| XM_017015134.1:c.3525+318_3525+319del | XP_016870623.1:n.3525+318_3525+319del | |
| XM_017015136.2:c.3441+318_3441+319del | XP_016870625.1:n.3441+318_3441+319del | |
| XM_017015137.1:c.3426+318_3426+319del | XP_016870626.1:n.3426+318_3426+319del | |
| XM_017015138.1:c.3426+318_3426+319del | XP_016870627.1:n.3426+318_3426+319del | |
| XM_024447674.1:c.3369+318_3369+319del | XP_024303442.1:n.3369+318_3369+319del | |
| XM_024447675.1:c.3303+318_3303+319del | XP_024303443.1:n.3303+318_3303+319del | |
| XM_024447676.1:c.2664+318_2664+319del | XP_024303444.1:n.2664+318_2664+319del | |
| XM_024447677.1:c.2664+318_2664+319del | XP_024303445.1:n.2664+318_2664+319del | |
| XM_024447680.1:c.3282+318_3282+319del | XP_024303448.1:n.3282+318_3282+319del | |
| NM_024757.5:c.3540+318_3540+319del MANE Select | NP_079033.4:n.3540+318_3540+319del | |
| NM_001354263.2:c.3519+318_3519+319del | NP_001341192.1:n.3519+318_3519+319del |