Linked Data
dbSNP Id:
rs767077186
ExAC:
13:23912494 GTCT / G
gnomAD v2:
13-23912494-GTCT-G
gnomAD v4:
13-23338355-GTCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23338361_23338363del , CM000675.2:g.23338361_23338363del | GRCh38 |
| NC_000013.10:g.23912500_23912502del , CM000675.1:g.23912500_23912502del | GRCh37 |
| NC_000013.9:g.22810500_22810502del | NCBI36 |
| NG_012342.1:g.100345_100347del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+15427_2185+15429del | ENSP00000508399.1:n.2185+15427_2185+15429del | |
| ENST00000682944.1:c.5545_5547del | ENSP00000507173.1:p.Arg1849del | |
| ENST00000683210.1:c.2185+15427_2185+15429del | ENSP00000506739.1:n.2185+15427_2185+15429del | |
| ENST00000683270.1:c.5509_5511del | ENSP00000507624.1:p.Arg1837del | |
| ENST00000683367.1:c.2177-8874_2177-8872del | ENSP00000507780.1:n.2177-8874_2177-8872del | |
| ENST00000683489.1:c.2291+3227_2291+3229del | ENSP00000508403.1:n.2291+3227_2291+3229del | |
| ENST00000683680.1:c.2318+3227_2318+3229del | ENSP00000507223.1:n.2318+3227_2318+3229del | |
| ENST00000684163.1:c.2203+8453_2203+8455del | ENSP00000508262.1:n.2203+8453_2203+8455del | |
| ENST00000684196.1:n.4543-8874_4543-8872del | ||
| ENST00000684325.1:c.2185+15427_2185+15429del | ENSP00000508121.1:n.2185+15427_2185+15429del | |
| ENST00000684385.1:c.2220+8453_2220+8455del | ENSP00000507855.1:n.2220+8453_2220+8455del | |
| ENST00000684497.1:c.2185+15427_2185+15429del | ENSP00000507057.1:n.2185+15427_2185+15429del | |
| ENST00000382292.9:c.5518_5520del MANE Select | ENSP00000371729.3:p.Arg1840del | |
| ENST00000423156.2:c.2186-8874_2186-8872del | ENSP00000390925.2:n.2186-8874_2186-8872del | |
| ENST00000455470.6:c.2431+3087_2431+3089del | ENSP00000406565.2:n.2431+3087_2431+3089del | |
| ENST00000382292.7:c.5518_5520del | ENSP00000371729.3:p.Arg1840del | |
| ENST00000382298.7:c.5518_5520del | ENSP00000371735.3:p.Arg1840del | |
| ENST00000402364.1:c.3268_3270del | ENSP00000385844.1:p.Arg1090del | |
| ENST00000423156.1:c.1058-8874_1058-8872del | ENSP00000390925.1:n.1058-8874_1058-8872del | |
| ENST00000455470.5:c.2129+3087_2129+3089del | ||
| NM_001278055.1:c.5077_5079del | NP_001264984.1:p.Arg1693del | |
| NM_014363.5:c.5518_5520del | NP_055178.3:p.Arg1840del | |
| XM_005266338.1:c.5545_5547del | XP_005266395.1:p.Arg1849del | |
| XM_011535038.1:c.5569_5571del | XP_011533340.1:p.Arg1857del | |
| XM_011535039.1:c.5536_5538del | XP_011533341.1:p.Arg1846del | |
| XM_005266338.2:c.5545_5547del | XP_005266395.1:p.Arg1849del | |
| XM_011535039.2:c.5536_5538del | XP_011533341.1:p.Arg1846del | |
| XM_017020539.1:c.5509_5511del | XP_016876028.1:p.Arg1837del | |
| XM_024449337.1:c.5545_5547del | XP_024305105.1:p.Arg1849del | |
| NM_014363.6:c.5518_5520del MANE Select | NP_055178.3:p.Arg1840del | |
| NM_001278055.2:c.5077_5079del | NP_001264984.1:p.Arg1693del |