Linked Data
dbSNP Id:
rs981131662
gnomAD v3:
15-74312512-TCTCCCTG-T
gnomAD v4:
15-74312512-TCTCCCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74312521_74312527del , CM000677.2:g.74312521_74312527del | GRCh38 |
| NC_000015.9:g.74604862_74604868del , CM000677.1:g.74604862_74604868del | GRCh37 |
| NC_000015.8:g.72391915_72391921del | NCBI36 |
| NG_054754.1:g.114817_114823del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635913.2:c.1944+16573_1944+16579del | ENSP00000490425.2:n.1944+16573_1944+16579... | |
| ENST00000398814.8:c.1290+16573_1290+16579del MANE Select | ENSP00000381795.3:n.1290+16573_1290+16579... | |
| ENST00000398814.7:c.1290+16573_1290+16579del | ENSP00000381795.3:n.1290+16573_1290+16579... | |
| ENST00000558659.5:c.931+16573_931+16579del | ||
| NM_025055.4:c.1290+16573_1290+16579del | NP_079331.3:n.1290+16573_1290+16579del | |
| XM_005254692.1:c.1290+16573_1290+16579del | XP_005254749.1:n.1290+16573_1290+16579del... | |
| XM_006720697.2:c.1962+16573_1962+16579del | XP_006720760.1:n.1962+16573_1962+16579del... | |
| XM_011522085.1:c.1944+16573_1944+16579del | XP_011520387.1:n.1944+16573_1944+16579del... | |
| XM_011522086.1:c.1308+16573_1308+16579del | XP_011520388.1:n.1308+16573_1308+16579del... | |
| XM_011522087.1:c.1290+16573_1290+16579del | XP_011520389.1:n.1290+16573_1290+16579del... | |
| XM_011522088.1:c.1290+16573_1290+16579del | XP_011520390.1:n.1290+16573_1290+16579del... | |
| XM_011522089.1:c.402+16573_402+16579del | XP_011520391.1:n.402+16573_402+16579del | |
| XM_005254692.2:c.1290+16573_1290+16579del | XP_005254749.1:n.1290+16573_1290+16579del... | |
| XM_011522085.3:c.1944+16573_1944+16579del | XP_011520387.1:n.1944+16573_1944+16579del... | |
| XM_011522087.2:c.1290+16573_1290+16579del | XP_011520389.1:n.1290+16573_1290+16579del... | |
| XM_011522089.3:c.402+16573_402+16579del | XP_011520391.1:n.402+16573_402+16579del | |
| XM_017022623.1:c.1944+16573_1944+16579del | XP_016878112.1:n.1944+16573_1944+16579del... | |
| XM_017022624.1:c.1944+16573_1944+16579del | XP_016878113.1:n.1944+16573_1944+16579del... | |
| XM_017022625.1:c.1944+16573_1944+16579del | XP_016878114.1:n.1944+16573_1944+16579del... | |
| XM_017022626.2:c.1944+16573_1944+16579del | XP_016878115.1:n.1944+16573_1944+16579del... | |
| XM_017022627.1:c.1944+16573_1944+16579del | XP_016878116.1:n.1944+16573_1944+16579del... | |
| XM_017022628.1:c.1944+16573_1944+16579del | XP_016878117.1:n.1944+16573_1944+16579del... | |
| XR_001751400.1:n.2566+16573_2566+16579del | ||
| XR_001751401.1:n.2566+16573_2566+16579del | ||
| NM_025055.5:c.1290+16573_1290+16579del MANE Select | NP_079331.3:n.1290+16573_1290+16579del |