Linked Data
ClinVar Variation Id:
556703
ClinVar RCV Id:
RCV000672744
dbSNP Id:
rs1188844823
gnomAD v2:
13-23912395-AAT-A
gnomAD v4:
13-23338256-AAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23338258_23338259del , CM000675.2:g.23338258_23338259del | GRCh38 |
| NC_000013.10:g.23912397_23912398del , CM000675.1:g.23912397_23912398del | GRCh37 |
| NC_000013.9:g.22810397_22810398del | NCBI36 |
| NG_012342.1:g.100445_100446del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+15527_2185+15528del | ENSP00000508399.1:n.2185+15527_2185+15528del | |
| ENST00000682944.1:c.5645_5646del | ENSP00000507173.1:p.Tyr1882PhefsTer23 | |
| ENST00000683210.1:c.2185+15527_2185+15528del | ENSP00000506739.1:n.2185+15527_2185+15528del | |
| ENST00000683270.1:c.5609_5610del | ENSP00000507624.1:p.Tyr1870PhefsTer23 | |
| ENST00000683367.1:c.2177-8774_2177-8773del | ENSP00000507780.1:n.2177-8774_2177-8773del | |
| ENST00000683489.1:c.2291+3327_2291+3328del | ENSP00000508403.1:n.2291+3327_2291+3328del | |
| ENST00000683680.1:c.2318+3327_2318+3328del | ENSP00000507223.1:n.2318+3327_2318+3328del | |
| ENST00000684163.1:c.2203+8553_2203+8554del | ENSP00000508262.1:n.2203+8553_2203+8554del | |
| ENST00000684196.1:n.4543-8774_4543-8773del | ||
| ENST00000684325.1:c.2185+15527_2185+15528del | ENSP00000508121.1:n.2185+15527_2185+15528del | |
| ENST00000684385.1:c.2220+8553_2220+8554del | ENSP00000507855.1:n.2220+8553_2220+8554del | |
| ENST00000684497.1:c.2185+15527_2185+15528del | ENSP00000507057.1:n.2185+15527_2185+15528del | |
| ENST00000382292.9:c.5618_5619del MANE Select | ENSP00000371729.3:p.Tyr1873PhefsTer23 | |
| ENST00000423156.2:c.2186-8774_2186-8773del | ENSP00000390925.2:n.2186-8774_2186-8773del | |
| ENST00000455470.6:c.2431+3187_2431+3188del | ENSP00000406565.2:n.2431+3187_2431+3188del | |
| ENST00000382292.7:c.5618_5619del | ENSP00000371729.3:p.Tyr1873PhefsTer23 | |
| ENST00000382298.7:c.5618_5619del | ENSP00000371735.3:p.Tyr1873PhefsTer23 | |
| ENST00000402364.1:c.3368_3369del | ENSP00000385844.1:p.Tyr1123PhefsTer23 | |
| ENST00000423156.1:c.1058-8774_1058-8773del | ENSP00000390925.1:n.1058-8774_1058-8773del | |
| ENST00000455470.5:c.2129+3187_2129+3188del | ||
| NM_001278055.1:c.5177_5178del | NP_001264984.1:p.Tyr1726PhefsTer23 | |
| NM_014363.5:c.5618_5619del | NP_055178.3:p.Tyr1873PhefsTer23 | |
| XM_005266338.1:c.5645_5646del | XP_005266395.1:p.Tyr1882PhefsTer23 | |
| XM_011535038.1:c.5669_5670del | XP_011533340.1:p.Tyr1890PhefsTer23 | |
| XM_011535039.1:c.5636_5637del | XP_011533341.1:p.Tyr1879PhefsTer23 | |
| XM_005266338.2:c.5645_5646del | XP_005266395.1:p.Tyr1882PhefsTer23 | |
| XM_011535039.2:c.5636_5637del | XP_011533341.1:p.Tyr1879PhefsTer23 | |
| XM_017020539.1:c.5609_5610del | XP_016876028.1:p.Tyr1870PhefsTer23 | |
| XM_024449337.1:c.5645_5646del | XP_024305105.1:p.Tyr1882PhefsTer23 | |
| NM_014363.6:c.5618_5619del MANE Select | NP_055178.3:p.Tyr1873PhefsTer23 | |
| NM_001278055.2:c.5177_5178del | NP_001264984.1:p.Tyr1726PhefsTer23 |