Linked Data
dbSNP Id:
rs971167188
gnomAD v2:
7-99365806-CAAAA-C
gnomAD v3:
7-99768183-CAAAA-C
gnomAD v4:
7-99768183-CAAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99768187_99768190del , CM000669.2:g.99768187_99768190del | GRCh38 |
| NC_000007.13:g.99365810_99365813del , CM000669.1:g.99365810_99365813del | GRCh37 |
| NC_000007.12:g.99203746_99203749del | NCBI36 |
| NG_008421.1:g.20999_21002del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.670+167_670+170del | ENSP00000337915.3:n.670+167_670+170del | |
| ENST00000651514.1:c.670+167_670+170del MANE Select | ENSP00000498939.1:n.670+167_670+170del | |
| ENST00000651783.1:c.211+167_211+170del | ENSP00000498924.1:n.211+167_211+170del | |
| ENST00000652018.1:c.523+167_523+170del | ENSP00000498733.1:n.523+167_523+170del | |
| ENST00000336411.6:c.670+167_670+170del | ENSP00000337915.2:n.670+167_670+170del | |
| ENST00000354593.6:c.220+167_220+170del | ENSP00000346607.2:n.220+167_220+170del | |
| NM_001202855.2:c.670+167_670+170del | NP_001189784.1:n.670+167_670+170del | |
| NM_017460.5:c.670+167_670+170del | NP_059488.2:n.670+167_670+170del | |
| XM_011515841.1:c.670+167_670+170del | XP_011514143.1:n.670+167_670+170del | |
| XM_011515842.1:c.670+167_670+170del | XP_011514144.1:n.670+167_670+170del | |
| NM_017460.6:c.670+167_670+170del MANE Select | NP_059488.2:n.670+167_670+170del | |
| NM_001202855.3:c.670+167_670+170del | NP_001189784.1:n.670+167_670+170del |