Linked Data
ClinVar Variation Id:
12017
ClinVar RCV Id:
RCV000012797
dbSNP Id:
rs202247821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136329944_136329946dup , CM000665.2:g.136329944_136329946dup | GRCh38 |
| NC_000003.11:g.136048786_136048788dup , CM000665.1:g.136048786_136048788dup | GRCh37 |
| NC_000003.10:g.137531476_137531478dup | NCBI36 |
| NG_008939.1:g.84620_84622dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251654.9:c.1538_1540dup MANE Select | ENSP00000251654.4:p.Ala513_Arg514insPro | |
| ENST00000251654.8:c.1538_1540dup | ENSP00000251654.4:p.Ala513_Arg514insPro | |
| ENST00000462637.5:c.1469_1471dup | ENSP00000420391.1:p.Ala490_Arg491insPro | |
| ENST00000466072.5:c.1598_1600dup | ENSP00000420158.1:p.Ala533_Arg534insPro | |
| ENST00000468777.5:c.1631_1633dup | ENSP00000419129.1:p.Ala544_Arg545insPro | |
| ENST00000469217.5:c.1598_1600dup | ENSP00000419027.1:p.Ala533_Arg534insPro | |
| ENST00000471595.5:c.1538_1540dup | ENSP00000417549.1:p.Ala513_Arg514insPro | |
| ENST00000473073.1:n.1739_1741dup | ||
| ENST00000478469.5:c.885-4336_885-4334dup | ENSP00000420759.1:n.885-4336_885-4334dup | |
| ENST00000482086.5:c.1190_1192dup | ENSP00000417253.1:p.Ala397_Arg398insPro | |
| ENST00000483687.5:c.1481_1483dup | ENSP00000420639.1:p.Ala494_Arg495insPro | |
| ENST00000484181.5:c.*219_*221dup | ENSP00000417937.1:n.*219_*221dup | |
| ENST00000490504.5:c.1367_1369dup | ENSP00000418307.1:p.Ala456_Arg457insPro | |
| NM_000532.4:c.1538_1540dup | NP_000523.2:p.Ala513_Arg514insPro | |
| NM_001178014.1:c.1598_1600dup | NP_001171485.1:p.Ala533_Arg534insPro | |
| NM_000532.5:c.1538_1540dup MANE Select | NP_000523.2:p.Ala513_Arg514insPro | |
| NM_001178014.2:c.1598_1600dup | NP_001171485.1:p.Ala533_Arg534insPro |