Linked Data
dbSNP Id:
rs1254096394
gnomAD v2:
X-65241728-TA-T
gnomAD v3:
X-66021886-TA-T
gnomAD v4:
X-66021886-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.66021887del , CM000685.2:g.66021887del | GRCh38 |
| NC_000023.10:g.65241729del , CM000685.1:g.65241729del | GRCh37 |
| NC_000023.9:g.65158454del | NCBI36 |
| NG_021306.1:g.23239del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374737.9:c.*376del MANE Select | ENSP00000363869.4:n.*376del | |
| ENST00000651578.1:c.*826del | ENSP00000498502.1:n.*826del | |
| ENST00000374737.8:c.*376del | ENSP00000363869.4:n.*376del | |
| ENST00000412866.2:c.*376del | ENSP00000394143.2:n.*376del | |
| ENST00000427538.5:c.1021del | ||
| ENST00000455586.6:c.*950del | ENSP00000411581.2:n.*950del | |
| NM_001100431.1:c.*376del | NP_001093901.1:n.*376del | |
| NM_001184830.1:c.*950del | NP_001171759.1:n.*950del | |
| NM_001184831.1:c.*950del | NP_001171760.1:n.*950del | |
| NM_001257403.1:c.*198del | NP_001244332.1:n.*198del | |
| NM_007268.2:c.*376del | NP_009199.1:n.*376del | |
| XM_017029251.2:c.*198del | XP_016884740.1:n.*198del | |
| NM_007268.3:c.*376del MANE Select | NP_009199.1:n.*376del | |
| NM_001100431.2:c.*376del | NP_001093901.1:n.*376del | |
| NM_001184831.2:c.*950del | NP_001171760.1:n.*950del | |
| NM_001257403.2:c.*198del | NP_001244332.1:n.*198del | |
| NM_001184830.2:c.*950del | NP_001171759.1:n.*950del |