Linked Data
dbSNP Id:
rs1306673519
gnomAD v2:
13-23914376-T-TA
gnomAD v3:
13-23340237-T-TA
gnomAD v4:
13-23340237-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23340239dup , CM000675.2:g.23340239dup | GRCh38 |
| NC_000013.10:g.23914378dup , CM000675.1:g.23914378dup | GRCh37 |
| NC_000013.9:g.22812378dup | NCBI36 |
| NG_012342.1:g.98465dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+13547dup | ENSP00000508399.1:n.2185+13547dup | |
| ENST00000682944.1:c.3665dup | ENSP00000507173.1:p.Leu1222PhefsTer8 | |
| ENST00000683210.1:c.2185+13547dup | ENSP00000506739.1:n.2185+13547dup | |
| ENST00000683270.1:c.3629dup | ENSP00000507624.1:p.Leu1210PhefsTer8 | |
| ENST00000683367.1:c.2177-10754dup | ENSP00000507780.1:n.2177-10754dup | |
| ENST00000683489.1:c.2291+1347dup | ENSP00000508403.1:n.2291+1347dup | |
| ENST00000683680.1:c.2318+1347dup | ENSP00000507223.1:n.2318+1347dup | |
| ENST00000684163.1:c.2203+6573dup | ENSP00000508262.1:n.2203+6573dup | |
| ENST00000684196.1:n.4543-10754dup | ||
| ENST00000684325.1:c.2185+13547dup | ENSP00000508121.1:n.2185+13547dup | |
| ENST00000684385.1:c.2220+6573dup | ENSP00000507855.1:n.2220+6573dup | |
| ENST00000684497.1:c.2185+13547dup | ENSP00000507057.1:n.2185+13547dup | |
| ENST00000382292.9:c.3638dup MANE Select | ENSP00000371729.3:p.Leu1213PhefsTer8 | |
| ENST00000423156.2:c.2186-10754dup | ENSP00000390925.2:n.2186-10754dup | |
| ENST00000455470.6:c.2431+1207dup | ENSP00000406565.2:n.2431+1207dup | |
| ENST00000382292.7:c.3638dup | ENSP00000371729.3:p.Leu1213PhefsTer8 | |
| ENST00000382298.7:c.3638dup | ENSP00000371735.3:p.Leu1213PhefsTer8 | |
| ENST00000402364.1:c.1388dup | ENSP00000385844.1:p.Leu463PhefsTer8 | |
| ENST00000423156.1:c.1058-10754dup | ENSP00000390925.1:n.1058-10754dup | |
| ENST00000455470.5:c.2129+1207dup | ||
| NM_001278055.1:c.3197dup | NP_001264984.1:p.Leu1066PhefsTer8 | |
| NM_014363.5:c.3638dup | NP_055178.3:p.Leu1213PhefsTer8 | |
| XM_005266338.1:c.3665dup | XP_005266395.1:p.Leu1222PhefsTer8 | |
| XM_011535038.1:c.3689dup | XP_011533340.1:p.Leu1230PhefsTer8 | |
| XM_011535039.1:c.3656dup | XP_011533341.1:p.Leu1219PhefsTer8 | |
| XM_005266338.2:c.3665dup | XP_005266395.1:p.Leu1222PhefsTer8 | |
| XM_011535039.2:c.3656dup | XP_011533341.1:p.Leu1219PhefsTer8 | |
| XM_017020539.1:c.3629dup | XP_016876028.1:p.Leu1210PhefsTer8 | |
| XM_024449337.1:c.3665dup | XP_024305105.1:p.Leu1222PhefsTer8 | |
| NM_014363.6:c.3638dup MANE Select | NP_055178.3:p.Leu1213PhefsTer8 | |
| NM_001278055.2:c.3197dup | NP_001264984.1:p.Leu1066PhefsTer8 |