Linked Data
dbSNP Id:
rs1444699434
gnomAD v2:
1-200007411-AAC-A
gnomAD v3:
1-200038283-AAC-A
gnomAD v4:
1-200038283-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.200038287_200038288del , CM000663.2:g.200038287_200038288del | GRCh38 |
| NC_000001.10:g.200007415_200007416del , CM000663.1:g.200007415_200007416del | GRCh37 |
| NC_000001.9:g.198274038_198274039del | NCBI36 |
| NG_050913.1:g.15686_15687del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367362.8:c.65-1371_65-1370del MANE Select | ENSP00000356331.3:n.65-1371_65-1370del | |
| ENST00000236914.7:c.65-5487_65-5486del | ENSP00000236914.3:n.65-5487_65-5486del | |
| ENST00000367362.7:c.65-1371_65-1370del | ENSP00000356331.3:n.65-1371_65-1370del | |
| ENST00000447034.1:c.30-414_30-413del | ||
| ENST00000474307.1:c.*419-5487_*419-5486del | ENSP00000436776.1:n.*419-5487_*419-5486de... | |
| NM_003822.4:c.65-5487_65-5486del | NP_003813.1:n.65-5487_65-5486del | |
| NM_205860.2:c.65-1371_65-1370del | NP_995582.1:n.65-1371_65-1370del | |
| XM_011509380.1:c.-56-1371_-56-1370del | XP_011507682.1:n.-56-1371_-56-1370del | |
| XM_011509382.1:c.-14-5487_-14-5486del | XP_011507684.1:n.-14-5487_-14-5486del | |
| XM_011509381.3:c.-542_-541del | XP_011507683.1:n.-542_-541del | |
| NM_205860.3:c.65-1371_65-1370del MANE Select | NP_995582.1:n.65-1371_65-1370del | |
| NM_003822.5:c.65-5487_65-5486del | NP_003813.1:n.65-5487_65-5486del |