Linked Data
ClinVar Variation Id:
1657625
ClinVar RCV Id:
RCV002171525
dbSNP Id:
rs748555399
ExAC:
2:170010954 CA / C
gnomAD v2:
2-170010954-CA-C
gnomAD v4:
2-169154444-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154447del , CM000664.2:g.169154447del | GRCh38 |
| NC_000002.11:g.170010957del , CM000664.1:g.170010957del | GRCh37 |
| NC_000002.10:g.169719203del | NCBI36 |
| NG_012634.1:g.213168del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649046.1:c.12295+15del MANE Select | ENSP00000496870.1:n.12295+15del | |
| ENST00000649153.1:c.3195+15del | ||
| ENST00000650252.1:c.1323+15del | ENSP00000496887.1:n.1323+15del | |
| ENST00000263816.7:c.12295+15del | ENSP00000263816.3:n.12295+15del | |
| NM_004525.2:c.12295+15del | NP_004516.2:n.12295+15del | |
| XM_011511183.1:c.12166+15del | XP_011509485.1:n.12166+15del | |
| XM_011511184.1:c.10006+15del | XP_011509486.1:n.10006+15del | |
| NM_004525.3:c.12295+15del MANE Select | NP_004516.2:n.12295+15del | |
| XM_011511183.3:c.12166+15del | XP_011509485.1:n.12166+15del | |
| XM_011511184.2:c.10006+15del | XP_011509486.1:n.10006+15del |