Linked Data
ClinVar Variation Id:
551277
ClinVar RCV Id:
RCV000666291
dbSNP Id:
rs1555251421
gnomAD v4:
13-23336432-T-TTACAGTGG
MyVariant Identifiers:
chr13:g.23336433_23336440dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23336435_23336442dup , CM000675.2:g.23336435_23336442dup | GRCh38 |
| NC_000013.10:g.23910574_23910581dup , CM000675.1:g.23910574_23910581dup | GRCh37 |
| NC_000013.9:g.22808574_22808581dup | NCBI36 |
| NG_012342.1:g.102263_102270dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+17345_2185+17352dup | ENSP00000508399.1:n.2185+17345_2185+17352dup | |
| ENST00000682944.1:c.7463_7470dup | ENSP00000507173.1:p.Lys2491ProfsTer3 | |
| ENST00000683210.1:c.2185+17345_2185+17352dup | ENSP00000506739.1:n.2185+17345_2185+17352dup | |
| ENST00000683270.1:c.6445+982_6445+989dup | ENSP00000507624.1:n.6445+982_6445+989dup | |
| ENST00000683367.1:c.2177-6956_2177-6949dup | ENSP00000507780.1:n.2177-6956_2177-6949dup | |
| ENST00000683489.1:c.2291+5145_2291+5152dup | ENSP00000508403.1:n.2291+5145_2291+5152dup | |
| ENST00000683680.1:c.2318+5145_2318+5152dup | ENSP00000507223.1:n.2318+5145_2318+5152dup | |
| ENST00000684163.1:c.2204-6956_2204-6949dup | ENSP00000508262.1:n.2204-6956_2204-6949dup | |
| ENST00000684196.1:n.4543-6956_4543-6949dup | ||
| ENST00000684325.1:c.2186-14766_2186-14759dup | ENSP00000508121.1:n.2186-14766_2186-14759dup | |
| ENST00000684385.1:c.2221-6956_2221-6949dup | ENSP00000507855.1:n.2221-6956_2221-6949dup | |
| ENST00000684497.1:c.2186-13796_2186-13789dup | ENSP00000507057.1:n.2186-13796_2186-13789dup | |
| ENST00000382292.9:c.7436_7443dup MANE Select | ENSP00000371729.3:p.Lys2482ProfsTer3 | |
| ENST00000423156.2:c.2186-6956_2186-6949dup | ENSP00000390925.2:n.2186-6956_2186-6949dup | |
| ENST00000455470.6:c.2431+5005_2431+5012dup | ENSP00000406565.2:n.2431+5005_2431+5012dup | |
| ENST00000382292.7:c.7436_7443dup | ENSP00000371729.3:p.Lys2482ProfsTer3 | |
| ENST00000382298.7:c.7436_7443dup | ENSP00000371735.3:p.Lys2482ProfsTer3 | |
| ENST00000402364.1:c.5186_5193dup | ENSP00000385844.1:p.Lys1732ProfsTer3 | |
| ENST00000423156.1:c.1058-6956_1058-6949dup | ENSP00000390925.1:n.1058-6956_1058-6949dup | |
| ENST00000455470.5:c.2129+5005_2129+5012dup | ||
| NM_001278055.1:c.6995_7002dup | NP_001264984.1:p.Lys2335ProfsTer3 | |
| NM_014363.5:c.7436_7443dup | NP_055178.3:p.Lys2482ProfsTer3 | |
| XM_005266338.1:c.7463_7470dup | XP_005266395.1:p.Lys2491ProfsTer3 | |
| XM_011535038.1:c.7487_7494dup | XP_011533340.1:p.Lys2499ProfsTer3 | |
| XM_011535039.1:c.7454_7461dup | XP_011533341.1:p.Lys2488ProfsTer3 | |
| XM_005266338.2:c.7463_7470dup | XP_005266395.1:p.Lys2491ProfsTer3 | |
| XM_011535039.2:c.7454_7461dup | XP_011533341.1:p.Lys2488ProfsTer3 | |
| XM_017020539.1:c.7427_7434dup | XP_016876028.1:p.Lys2479ProfsTer3 | |
| XM_024449337.1:c.7463_7470dup | XP_024305105.1:p.Lys2491ProfsTer3 | |
| NM_014363.6:c.7436_7443dup MANE Select | NP_055178.3:p.Lys2482ProfsTer3 | |
| NM_001278055.2:c.6995_7002dup | NP_001264984.1:p.Lys2335ProfsTer3 |