Canonical Allele Identifier: CA2014392220
Gene: C1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7086495_7086496delinsAG , CM000674.2:g.7086495_7086496delinsAG GRCh38
NG_062465.1:g.11112_11113delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000647956.2:c.1039-39_1039-38delinsCT MANE Select ENSP00000497341.1:n.1039-39_1039-38delinsCT
ENST00000648162.1:n.1011-39_1011-38delinsCT
ENST00000649804.1:c.133-39_133-38delinsCT ENSP00000497938.1:n.133-39_133-38delinsCT
ENST00000535233.6:c.937-39_937-38delinsCT ENSP00000438636.3:n.937-39_937-38delinsCT
ENST00000536053.6:c.1081-39_1081-38delinsCT ENSP00000444271.3:n.1081-39_1081-38delinsCT
ENST00000540394.5:n.2104-39_2104-38delinsCT
ENST00000542285.5:c.1039-39_1039-38delinsCT ENSP00000438615.2:n.1039-39_1039-38delinsCT
ENST00000602298.2:n.1349_1350delinsCT
NM_001733.4:c.1039-39_1039-38delinsCT NP_001724.3:n.1039-39_1039-38delinsCT
NM_001354346.1:c.1081-39_1081-38delinsCT NP_001341275.1:n.1081-39_1081-38delinsCT
NM_001733.6:c.1039-39_1039-38delinsCT NP_001724.4:n.1039-39_1039-38delinsCT
NM_001733.7:c.1039-39_1039-38delinsCT MANE Select NP_001724.4:n.1039-39_1039-38delinsCT
NM_001354346.2:c.1081-39_1081-38delinsCT NP_001341275.1:n.1081-39_1081-38delinsCT