Canonical Allele Identifier: CA16042209

Linked Data

ClinVar Variation Id: 372130
dbSNP Id: rs1057519025

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7091533_7091534delinsAT , CM000674.2:g.7091533_7091534delinsAT GRCh38
NC_000012.11:g.7244129_7244130delinsAT , CM000674.1:g.7244129_7244130delinsAT GRCh37
NC_000012.10:g.7135270_7135271delinsAT NCBI36
NG_062465.1:g.6074_6075delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000647956.2:c.149_150delinsAT (C1R) MANE Select ENSP00000497341.1:p.Val50Asp
ENST00000535233.6:c.149_150delinsAT (C1R) ENSP00000438636.3:p.Val50Asp
ENST00000536053.6:c.191_192delinsAT (C1R) ENSP00000444271.3:p.Val64Asp
ENST00000536092.1:n.254_255delinsAT (C1R)
ENST00000538050.5:c.-167_-166delinsAT (C1R) ENSP00000444009.1:n.-167_-166delinsAT
ENST00000539803.5:c.616_617delinsAT (C1RL)
ENST00000540242.2:c.149_150delinsAT (C1R) ENSP00000442946.1:p.Val50Asp
ENST00000540394.5:n.908_909delinsAT (C1R)
ENST00000540610.5:c.-85+853_-85+854delinsAT (C1R) ENSP00000439223.1:n.-85+853_-85+854delins...
ENST00000541042.5:c.-167_-166delinsAT (C1R) ENSP00000441601.1:n.-167_-166delinsAT
ENST00000542285.5:c.149_150delinsAT (C1R) ENSP00000438615.2:p.Val50Asp
ENST00000543362.5:c.149_150delinsAT (C1R) ENSP00000446356.1:p.Val50Asp
ENST00000543835.5:c.149_150delinsAT (C1R) ENSP00000445285.1:p.Val50Asp
ENST00000545466.1:n.202_203delinsAT (C1R)
NM_001733.4:c.149_150delinsAT (C1R) NP_001724.3:p.Val50Asp
NM_001354346.1:c.191_192delinsAT (C1R) NP_001341275.1:p.Val64Asp
NM_001733.6:c.149_150delinsAT (C1R) NP_001724.4:p.Val50Asp
NM_001733.7:c.149_150delinsAT (C1R) MANE Select NP_001724.4:p.Val50Asp
NM_001354346.2:c.191_192delinsAT (C1R) NP_001341275.1:p.Val64Asp