Linked Data
ClinVar Variation Id:
1451977
dbSNP Id:
rs1467848128
gnomAD v2:
13-23910474-CAG-C
gnomAD v4:
13-23336335-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23336337_23336338del , CM000675.2:g.23336337_23336338del | GRCh38 |
| NC_000013.10:g.23910476_23910477del , CM000675.1:g.23910476_23910477del | GRCh37 |
| NC_000013.9:g.22808476_22808477del | NCBI36 |
| NG_012342.1:g.102366_102367del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+17448_2185+17449del | ENSP00000508399.1:n.2185+17448_2185+17449del | |
| ENST00000682944.1:c.7566_7567del | ENSP00000507173.1:p.Cys2523PhefsTer19 | |
| ENST00000683210.1:c.2185+17448_2185+17449del | ENSP00000506739.1:n.2185+17448_2185+17449del | |
| ENST00000683270.1:c.6445+1085_6445+1086del | ENSP00000507624.1:n.6445+1085_6445+1086del | |
| ENST00000683367.1:c.2177-6853_2177-6852del | ENSP00000507780.1:n.2177-6853_2177-6852del | |
| ENST00000683489.1:c.2291+5248_2291+5249del | ENSP00000508403.1:n.2291+5248_2291+5249del | |
| ENST00000683680.1:c.2318+5248_2318+5249del | ENSP00000507223.1:n.2318+5248_2318+5249del | |
| ENST00000684163.1:c.2204-6853_2204-6852del | ENSP00000508262.1:n.2204-6853_2204-6852del | |
| ENST00000684196.1:n.4543-6853_4543-6852del | ||
| ENST00000684325.1:c.2186-14663_2186-14662del | ENSP00000508121.1:n.2186-14663_2186-14662del | |
| ENST00000684385.1:c.2221-6853_2221-6852del | ENSP00000507855.1:n.2221-6853_2221-6852del | |
| ENST00000684497.1:c.2186-13693_2186-13692del | ENSP00000507057.1:n.2186-13693_2186-13692del | |
| ENST00000382292.9:c.7539_7540del MANE Select | ENSP00000371729.3:p.Cys2514PhefsTer19 | |
| ENST00000423156.2:c.2186-6853_2186-6852del | ENSP00000390925.2:n.2186-6853_2186-6852del | |
| ENST00000455470.6:c.2431+5108_2431+5109del | ENSP00000406565.2:n.2431+5108_2431+5109del | |
| ENST00000382292.7:c.7539_7540del | ENSP00000371729.3:p.Cys2514PhefsTer19 | |
| ENST00000382298.7:c.7539_7540del | ENSP00000371735.3:p.Cys2514PhefsTer19 | |
| ENST00000402364.1:c.5289_5290del | ENSP00000385844.1:p.Cys1764PhefsTer19 | |
| ENST00000423156.1:c.1058-6853_1058-6852del | ENSP00000390925.1:n.1058-6853_1058-6852del | |
| ENST00000455470.5:c.2129+5108_2129+5109del | ||
| NM_001278055.1:c.7098_7099del | NP_001264984.1:p.Cys2367PhefsTer19 | |
| NM_014363.5:c.7539_7540del | NP_055178.3:p.Cys2514PhefsTer19 | |
| XM_005266338.1:c.7566_7567del | XP_005266395.1:p.Cys2523PhefsTer19 | |
| XM_011535038.1:c.7590_7591del | XP_011533340.1:p.Cys2531PhefsTer19 | |
| XM_011535039.1:c.7557_7558del | XP_011533341.1:p.Cys2520PhefsTer19 | |
| XM_005266338.2:c.7566_7567del | XP_005266395.1:p.Cys2523PhefsTer19 | |
| XM_011535039.2:c.7557_7558del | XP_011533341.1:p.Cys2520PhefsTer19 | |
| XM_017020539.1:c.7530_7531del | XP_016876028.1:p.Cys2511PhefsTer19 | |
| XM_024449337.1:c.7566_7567del | XP_024305105.1:p.Cys2523PhefsTer19 | |
| NM_014363.6:c.7539_7540del MANE Select | NP_055178.3:p.Cys2514PhefsTer19 | |
| NM_001278055.2:c.7098_7099del | NP_001264984.1:p.Cys2367PhefsTer19 |