Linked Data
ClinVar Variation Id:
371360
ClinVar RCV Id:
RCV000411570
dbSNP Id:
rs1057517212
gnomAD v2:
13-23909402-C-CA
gnomAD v3:
13-23335263-C-CA
gnomAD v4:
13-23335263-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23335269dup , CM000675.2:g.23335269dup | GRCh38 |
| NC_000013.10:g.23909408dup , CM000675.1:g.23909408dup | GRCh37 |
| NC_000013.9:g.22807408dup | NCBI36 |
| NG_012342.1:g.103439dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+18521dup | ENSP00000508399.1:n.2185+18521dup | |
| ENST00000682944.1:c.8639dup | ENSP00000507173.1:p.Leu2880PhefsTer29 | |
| ENST00000683210.1:c.2185+18521dup | ENSP00000506739.1:n.2185+18521dup | |
| ENST00000683270.1:c.6445+2158dup | ENSP00000507624.1:n.6445+2158dup | |
| ENST00000683367.1:c.2177-5780dup | ENSP00000507780.1:n.2177-5780dup | |
| ENST00000683489.1:c.2292-5312dup | ENSP00000508403.1:n.2292-5312dup | |
| ENST00000683680.1:c.2319-5312dup | ENSP00000507223.1:n.2319-5312dup | |
| ENST00000684163.1:c.2204-5780dup | ENSP00000508262.1:n.2204-5780dup | |
| ENST00000684196.1:n.4543-5780dup | ||
| ENST00000684325.1:c.2186-13590dup | ENSP00000508121.1:n.2186-13590dup | |
| ENST00000684385.1:c.2221-5780dup | ENSP00000507855.1:n.2221-5780dup | |
| ENST00000684497.1:c.2186-12620dup | ENSP00000507057.1:n.2186-12620dup | |
| ENST00000382292.9:c.8612dup MANE Select | ENSP00000371729.3:p.Leu2871PhefsTer29 | |
| ENST00000423156.2:c.2186-5780dup | ENSP00000390925.2:n.2186-5780dup | |
| ENST00000455470.6:c.2432-5780dup | ENSP00000406565.2:n.2432-5780dup | |
| ENST00000382292.7:c.8612dup | ENSP00000371729.3:p.Leu2871PhefsTer29 | |
| ENST00000382298.7:c.8612dup | ENSP00000371735.3:p.Leu2871PhefsTer29 | |
| ENST00000402364.1:c.6362dup | ENSP00000385844.1:p.Leu2121PhefsTer29 | |
| ENST00000423156.1:c.1058-5780dup | ENSP00000390925.1:n.1058-5780dup | |
| ENST00000455470.5:c.2130-5780dup | ||
| NM_001278055.1:c.8171dup | NP_001264984.1:p.Leu2724PhefsTer29 | |
| NM_014363.5:c.8612dup | NP_055178.3:p.Leu2871PhefsTer29 | |
| XM_005266338.1:c.8639dup | XP_005266395.1:p.Leu2880PhefsTer29 | |
| XM_011535038.1:c.8663dup | XP_011533340.1:p.Leu2888PhefsTer29 | |
| XM_011535039.1:c.8630dup | XP_011533341.1:p.Leu2877PhefsTer29 | |
| XM_005266338.2:c.8639dup | XP_005266395.1:p.Leu2880PhefsTer29 | |
| XM_011535039.2:c.8630dup | XP_011533341.1:p.Leu2877PhefsTer29 | |
| XM_017020539.1:c.8603dup | XP_016876028.1:p.Leu2868PhefsTer29 | |
| XM_024449337.1:c.8639dup | XP_024305105.1:p.Leu2880PhefsTer29 | |
| NM_014363.6:c.8612dup MANE Select | NP_055178.3:p.Leu2871PhefsTer29 | |
| NM_001278055.2:c.8171dup | NP_001264984.1:p.Leu2724PhefsTer29 |