Linked Data
dbSNP Id:
rs1322493344
gnomAD v2:
4-156130930-GA-G
gnomAD v3:
4-155209778-GA-G
gnomAD v4:
4-155209778-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.155209783del , CM000666.2:g.155209783del | GRCh38 |
| NC_000004.11:g.156130935del , CM000666.1:g.156130935del | GRCh37 |
| NC_000004.10:g.156350385del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329476.4:c.-49+714del MANE Select | ENSP00000332591.3:n.-49+714del | |
| ENST00000329476.3:c.-49+714del | ENSP00000332591.3:n.-49+714del | |
| ENST00000506608.1:c.-49+718del | ENSP00000426366.1:n.-49+718del | |
| NM_000910.3:c.-49+714del | NP_000901.1:n.-49+714del | |
| XM_005263033.3:c.-48-4109del | XP_005263090.1:n.-48-4109del | |
| XM_005263034.3:c.-49+718del | XP_005263091.1:n.-49+718del | |
| XM_005263033.4:c.-48-4109del | XP_005263090.1:n.-48-4109del | |
| XM_005263034.4:c.-49+718del | XP_005263091.1:n.-49+718del | |
| NM_000910.4:c.-49+714del MANE Select | NP_000901.1:n.-49+714del | |
| NM_001370180.1:c.-49+718del | NP_001357109.1:n.-49+718del | |
| NM_001375470.1:c.-48-4109del | NP_001362399.1:n.-48-4109del |