Linked Data
ClinVar Variation Id:
555737
ClinVar RCV Id:
RCV000671609
dbSNP Id:
rs1555252611
MyVariant Identifiers:
chr13:g.23340320dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23340320dup , CM000675.2:g.23340320dup | GRCh38 |
| NC_000013.10:g.23914459dup , CM000675.1:g.23914459dup | GRCh37 |
| NC_000013.9:g.22812459dup | NCBI36 |
| NG_012342.1:g.98383dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+13465dup | ENSP00000508399.1:n.2185+13465dup | |
| ENST00000682944.1:c.3583dup | ENSP00000507173.1:p.Met1195AsnfsTer3 | |
| ENST00000683210.1:c.2185+13465dup | ENSP00000506739.1:n.2185+13465dup | |
| ENST00000683270.1:c.3547dup | ENSP00000507624.1:p.Met1183AsnfsTer3 | |
| ENST00000683367.1:c.2177-10836dup | ENSP00000507780.1:n.2177-10836dup | |
| ENST00000683489.1:c.2291+1265dup | ENSP00000508403.1:n.2291+1265dup | |
| ENST00000683680.1:c.2318+1265dup | ENSP00000507223.1:n.2318+1265dup | |
| ENST00000684163.1:c.2203+6491dup | ENSP00000508262.1:n.2203+6491dup | |
| ENST00000684196.1:n.4543-10836dup | ||
| ENST00000684325.1:c.2185+13465dup | ENSP00000508121.1:n.2185+13465dup | |
| ENST00000684385.1:c.2220+6491dup | ENSP00000507855.1:n.2220+6491dup | |
| ENST00000684497.1:c.2185+13465dup | ENSP00000507057.1:n.2185+13465dup | |
| ENST00000382292.9:c.3556dup MANE Select | ENSP00000371729.3:p.Met1186AsnfsTer3 | |
| ENST00000423156.2:c.2186-10836dup | ENSP00000390925.2:n.2186-10836dup | |
| ENST00000455470.6:c.2431+1125dup | ENSP00000406565.2:n.2431+1125dup | |
| ENST00000382292.7:c.3556dup | ENSP00000371729.3:p.Met1186AsnfsTer3 | |
| ENST00000382298.7:c.3556dup | ENSP00000371735.3:p.Met1186AsnfsTer3 | |
| ENST00000402364.1:c.1306dup | ENSP00000385844.1:p.Met436AsnfsTer3 | |
| ENST00000423156.1:c.1058-10836dup | ENSP00000390925.1:n.1058-10836dup | |
| ENST00000455470.5:c.2129+1125dup | ||
| NM_001278055.1:c.3115dup | NP_001264984.1:p.Met1039AsnfsTer3 | |
| NM_014363.5:c.3556dup | NP_055178.3:p.Met1186AsnfsTer3 | |
| XM_005266338.1:c.3583dup | XP_005266395.1:p.Met1195AsnfsTer3 | |
| XM_011535038.1:c.3607dup | XP_011533340.1:p.Met1203AsnfsTer3 | |
| XM_011535039.1:c.3574dup | XP_011533341.1:p.Met1192AsnfsTer3 | |
| XM_005266338.2:c.3583dup | XP_005266395.1:p.Met1195AsnfsTer3 | |
| XM_011535039.2:c.3574dup | XP_011533341.1:p.Met1192AsnfsTer3 | |
| XM_017020539.1:c.3547dup | XP_016876028.1:p.Met1183AsnfsTer3 | |
| XM_024449337.1:c.3583dup | XP_024305105.1:p.Met1195AsnfsTer3 | |
| NM_014363.6:c.3556dup MANE Select | NP_055178.3:p.Met1186AsnfsTer3 | |
| NM_001278055.2:c.3115dup | NP_001264984.1:p.Met1039AsnfsTer3 |