Linked Data
dbSNP Id:
rs780750843
ExAC:
12:53701412 GCCCGCC / G
gnomAD v2:
12-53701412-GCCCGCC-G
gnomAD v3:
12-53307628-GCCCGCC-G
gnomAD v4:
12-53307628-GCCCGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307630_53307635del , CM000674.2:g.53307630_53307635del | GRCh38 |
| NC_000012.11:g.53701414_53701419del , CM000674.1:g.53701414_53701419del | GRCh37 |
| NC_000012.10:g.51987681_51987686del | NCBI36 |
| NG_016775.1:g.18995_19000del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1496_1501del MANE Select | ENSP00000209873.4:p.Gly499_Arg500del | |
| ENST00000546562.6:n.2560_2565del | ||
| ENST00000547238.6:n.2132_2137del | ||
| ENST00000547520.6:n.1612_1617del | ||
| ENST00000547757.2:c.*414_*419del | ENSP00000448020.2:n.*414_*419del | |
| ENST00000548931.6:c.931_936del | ENSP00000457518.1:p.Gly311_Gly312del | |
| ENST00000549450.6:n.1430_1435del | ||
| ENST00000672797.1:n.1985_1990del | ||
| ENST00000209873.8:c.1496_1501del | ENSP00000209873.4:p.Gly499_Arg500del | |
| ENST00000394384.7:c.1397_1402del | ENSP00000377908.3:p.Gly466_Arg467del | |
| ENST00000548931.5:c.931_936del | ENSP00000457518.1:p.Gly311_Gly312del | |
| ENST00000550286.5:c.1124_1129del | ENSP00000446885.1:p.Gly375_Arg376del | |
| ENST00000552876.5:n.1839_1844del | ||
| NM_001173466.1:c.1397_1402del | NP_001166937.1:p.Gly466_Arg467del | |
| NM_015665.5:c.1496_1501del | NP_056480.1:p.Gly499_Arg500del | |
| XM_006719617.2:c.1511_1516del | XP_006719680.1:p.Gly504_Arg505del | |
| XM_011538777.1:c.1553_1558del | XP_011537079.1:p.Gly518_Arg519del | |
| XM_011538778.1:c.1538_1543del | XP_011537080.1:p.Gly513_Arg514del | |
| XM_011538779.1:c.1454_1459del | XP_011537081.1:p.Gly485_Arg486del | |
| XM_011538780.1:c.1439_1444del | XP_011537082.1:p.Gly480_Arg481del | |
| XM_011538781.1:c.887_892del | XP_011537083.1:p.Gly296_Arg297del | |
| XM_011538778.2:c.1538_1543del | XP_011537080.1:p.Gly513_Arg514del | |
| XM_011538780.2:c.1439_1444del | XP_011537082.1:p.Gly480_Arg481del | |
| XR_001748875.2:n.1553_1558del | ||
| NM_015665.6:c.1496_1501del MANE Select | NP_056480.1:p.Gly499_Arg500del | |
| NM_001173466.2:c.1397_1402del | NP_001166937.1:p.Gly466_Arg467del |