Linked Data
dbSNP Id:
rs1419193979
gnomAD v2:
4-126390006-TC-T
gnomAD v3:
4-125468851-TC-T
gnomAD v4:
4-125468851-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125468853del , CM000666.2:g.125468853del | GRCh38 |
| NC_000004.11:g.126390008del , CM000666.1:g.126390008del | GRCh37 |
| NC_000004.10:g.126609458del | NCBI36 |
| NG_033865.1:g.157442del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.12213+34del MANE Select | ENSP00000377862.4:n.12213+34del | |
| ENST00000674496.2:c.6984+34del | ENSP00000501473.2:n.6984+34del | |
| ENST00000335110.5:c.6996+34del | ENSP00000335169.5:n.6996+34del | |
| ENST00000394329.7:c.12207+34del | ENSP00000377862.3:n.12207+34del | |
| NM_001291285.1:c.12213+34del | NP_001278214.1:n.12213+34del | |
| NM_001291303.1:c.12213+34del | NP_001278232.1:n.12213+34del | |
| NM_024582.4:c.12207+34del | NP_078858.4:n.12207+34del | |
| XM_011532236.1:c.12213+34del | XP_011530538.1:n.12213+34del | |
| XM_011532237.1:c.6984+34del | XP_011530539.1:n.6984+34del | |
| XM_011532236.2:c.12213+34del | XP_011530538.1:n.12213+34del | |
| XM_011532237.2:c.6984+34del | XP_011530539.1:n.6984+34del | |
| NM_001291285.2:c.12213+34del | NP_001278214.1:n.12213+34del | |
| NM_001291303.3:c.12213+34del MANE Select | NP_001278232.1:n.12213+34del | |
| NM_024582.5:c.12207+34del | NP_078858.4:n.12207+34del | |
| NM_001291285.3:c.12213+34del | NP_001278214.1:n.12213+34del | |
| NM_024582.6:c.12207+34del | NP_078858.4:n.12207+34del |