Linked Data
dbSNP Id:
rs1396933628
gnomAD v2:
10-89487306-ACT-A
gnomAD v3:
10-87727549-ACT-A
gnomAD v4:
10-87727549-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727552_87727553del , CM000672.2:g.87727552_87727553del | GRCh38 |
| NC_000010.10:g.89487309_89487310del , CM000672.1:g.89487309_89487310del | GRCh37 |
| NC_000010.9:g.89477289_89477290del | NCBI36 |
| NG_012150.1:g.72834_72835del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1086+63_1086+64del MANE Select | ENSP00000406157.1:n.1086+63_1086+64del | |
| ENST00000361175.8:c.1071+63_1071+64del | ENSP00000354436.4:n.1071+63_1071+64del | |
| ENST00000456849.1:c.1086+63_1086+64del | ENSP00000406157.1:n.1086+63_1086+64del | |
| NM_001015880.1:c.1086+63_1086+64del | NP_001015880.1:n.1086+63_1086+64del | |
| NM_004670.3:c.1071+63_1071+64del | NP_004661.2:n.1071+63_1071+64del | |
| NM_001015880.2:c.1086+63_1086+64del MANE Select | NP_001015880.1:n.1086+63_1086+64del | |
| NM_004670.4:c.1071+63_1071+64del | NP_004661.2:n.1071+63_1071+64del |