Linked Data
dbSNP Id:
rs1262314997
gnomAD v3:
14-55136299-AACAAGT-A
gnomAD v4:
14-55136299-AACAAGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.55136302_55136307del , CM000676.2:g.55136302_55136307del | GRCh38 |
| NC_000014.8:g.55603020_55603025del , CM000676.1:g.55603020_55603025del | GRCh37 |
| NC_000014.7:g.54672773_54672778del | NCBI36 |
| NG_017089.1:g.12086_12091del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254301.14:c.-4-1068_-4-1063del MANE Select | ENSP00000254301.9:n.-4-1068_-4-1063del | |
| ENST00000254301.13:c.-4-1068_-4-1063del | ENSP00000254301.9:n.-4-1068_-4-1063del | |
| ENST00000553493.5:c.-4-1068_-4-1063del | ENSP00000451526.1:n.-4-1068_-4-1063del | |
| ENST00000553755.5:n.46-1743_46-1738del | ||
| ENST00000554715.1:c.-4-1068_-4-1063del | ENSP00000451381.1:n.-4-1068_-4-1063del | |
| NM_001177388.1:c.-4-1068_-4-1063del | NP_001170859.1:n.-4-1068_-4-1063del | |
| NM_002306.3:c.-4-1068_-4-1063del | NP_002297.2:n.-4-1068_-4-1063del | |
| XM_011536759.1:c.-4-1068_-4-1063del | XP_011535061.1:n.-4-1068_-4-1063del | |
| NM_001357678.1:c.39-1068_39-1063del | NP_001344607.1:n.39-1068_39-1063del | |
| NM_002306.4:c.-4-1068_-4-1063del MANE Select | NP_002297.2:n.-4-1068_-4-1063del | |
| NM_001357678.2:c.39-1068_39-1063del | NP_001344607.1:n.39-1068_39-1063del |