Linked Data
dbSNP Id:
rs1303848818
gnomAD v2:
7-99365764-CAG-C
gnomAD v3:
7-99768141-CAG-C
gnomAD v4:
7-99768141-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99768142_99768143del , CM000669.2:g.99768142_99768143del | GRCh38 |
| NC_000007.13:g.99365765_99365766del , CM000669.1:g.99365765_99365766del | GRCh37 |
| NC_000007.12:g.99203701_99203702del | NCBI36 |
| NG_008421.1:g.21043_21044del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.670+211_670+212del | ENSP00000337915.3:n.670+211_670+212del | |
| ENST00000651514.1:c.670+211_670+212del MANE Select | ENSP00000498939.1:n.670+211_670+212del | |
| ENST00000651783.1:c.211+211_211+212del | ENSP00000498924.1:n.211+211_211+212del | |
| ENST00000652018.1:c.523+211_523+212del | ENSP00000498733.1:n.523+211_523+212del | |
| ENST00000336411.6:c.670+211_670+212del | ENSP00000337915.2:n.670+211_670+212del | |
| ENST00000354593.6:c.220+211_220+212del | ENSP00000346607.2:n.220+211_220+212del | |
| NM_001202855.2:c.670+211_670+212del | NP_001189784.1:n.670+211_670+212del | |
| NM_017460.5:c.670+211_670+212del | NP_059488.2:n.670+211_670+212del | |
| XM_011515841.1:c.670+211_670+212del | XP_011514143.1:n.670+211_670+212del | |
| XM_011515842.1:c.670+211_670+212del | XP_011514144.1:n.670+211_670+212del | |
| NM_017460.6:c.670+211_670+212del MANE Select | NP_059488.2:n.670+211_670+212del | |
| NM_001202855.3:c.670+211_670+212del | NP_001189784.1:n.670+211_670+212del |