Canonical Allele Identifier: CA2014392218

Gene: C1R

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086494_7086495delinsGA , CM000674.2:g.7086494_7086495delinsGA	GRCh38
NG_062465.1:g.11113_11114delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1039-38_1039-37delinsTC MANE Select	ENSP00000497341.1:n.1039-38_1039-37delinsTC
ENST00000648162.1:n.1011-38_1011-37delinsTC
ENST00000649804.1:c.133-38_133-37delinsTC	ENSP00000497938.1:n.133-38_133-37delinsTC
ENST00000535233.6:c.937-38_937-37delinsTC	ENSP00000438636.3:n.937-38_937-37delinsTC
ENST00000536053.6:c.1081-38_1081-37delinsTC	ENSP00000444271.3:n.1081-38_1081-37delinsTC
ENST00000540394.5:n.2104-38_2104-37delinsTC
ENST00000542285.5:c.1039-38_1039-37delinsTC	ENSP00000438615.2:n.1039-38_1039-37delinsTC
ENST00000602298.2:n.1350_1351delinsTC
NM_001733.4:c.1039-38_1039-37delinsTC	NP_001724.3:n.1039-38_1039-37delinsTC
NM_001354346.1:c.1081-38_1081-37delinsTC	NP_001341275.1:n.1081-38_1081-37delinsTC
NM_001733.6:c.1039-38_1039-37delinsTC	NP_001724.4:n.1039-38_1039-37delinsTC
NM_001733.7:c.1039-38_1039-37delinsTC MANE Select	NP_001724.4:n.1039-38_1039-37delinsTC
NM_001354346.2:c.1081-38_1081-37delinsTC	NP_001341275.1:n.1081-38_1081-37delinsTC