ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37430520_37430521del , CM000671.2:g.37430520_37430521del | GRCh38 |
| NC_000009.11:g.37430517_37430518del , CM000671.1:g.37430517_37430518del | GRCh37 |
| NC_000009.10:g.37420517_37420518del | NCBI36 |
| NG_008135.1:g.12811_12812del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.608_609del MANE Select | ENSP00000313432.6:p.Pro203ArgfsTer7 | |
| ENST00000318158.10:c.608_609del | ENSP00000313432.6:p.Pro203ArgfsTer7 | |
| ENST00000377824.8:n.645_646del | ||
| ENST00000460882.5:n.635_636del | ||
| ENST00000480596.5:n.1309_1310del | ||
| ENST00000482603.1:n.61_62del | ||
| ENST00000491488.5:n.313_314del | ||
| ENST00000494290.1:c.179_180del | ENSP00000432021.1:p.Pro60ArgfsTer7 | |
| ENST00000497693.1:n.2815_2816del | ||
| ENST00000607784.1:c.608_609del | ENSP00000475569.1:p.Pro203ArgfsTer7 | |
| NM_012203.1:c.608_609del | NP_036335.1:p.Pro203ArgfsTer7 | |
| XM_005251631.1:c.287_288del | XP_005251688.1:p.Pro96ArgfsTer7 | |
| XM_011518073.1:c.206_207del | XP_011516375.1:p.Pro69ArgfsTer7 | |
| XR_929374.1:n.1053_1054del | ||
| XM_017015320.2:c.608_609del | XP_016870809.1:p.Pro203ArgfsTer7 | |
| XM_017015321.2:c.608_609del | XP_016870810.1:p.Pro203ArgfsTer7 | |
| XM_017015323.2:c.206_207del | XP_016870812.1:p.Pro69ArgfsTer7 | |
| XM_024447716.1:c.881_882del | XP_024303484.1:p.Pro294ArgfsTer7 | |
| XM_024447717.1:c.881_882del | XP_024303485.1:p.Pro294ArgfsTer7 | |
| XR_002956828.1:n.896_897del | ||
| XR_002956829.1:n.896_897del | ||
| XR_002956830.1:n.667_668del | ||
| XR_002956831.1:n.342_343del | ||
| XR_002956832.1:n.1027_1028del | ||
| NM_012203.2:c.608_609del MANE Select | NP_036335.1:p.Pro203ArgfsTer7 |