Canonical Allele Identifier: CA691438935

Gene: C1R

Linked Data

• dbSNP Id: rs1262214154
• gnomAD v3: 12-7086315-GGCCC-G
• gnomAD v4: 12-7086315-GGCCC-G
• MyVariant Identifiers: chr12:g.7086316_7086319del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086316_7086319del , CM000674.2:g.7086316_7086319del	GRCh38
NG_062465.1:g.11289_11292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1117+60_1117+63del MANE Select	ENSP00000497341.1:n.1117+60_1117+63del
ENST00000648162.1:n.1089+60_1089+63del
ENST00000649804.1:c.211+60_211+63del	ENSP00000497938.1:n.211+60_211+63del
ENST00000535233.6:c.1015+60_1015+63del	ENSP00000438636.3:n.1015+60_1015+63del
ENST00000536053.6:c.1159+60_1159+63del	ENSP00000444271.3:n.1159+60_1159+63del
ENST00000540394.5:n.2182+60_2182+63del
ENST00000542285.5:c.1117+60_1117+63del	ENSP00000438615.2:n.1117+60_1117+63del
ENST00000602298.2:n.1466+60_1466+63del
NM_001733.4:c.1117+60_1117+63del	NP_001724.3:n.1117+60_1117+63del
NM_001354346.1:c.1159+60_1159+63del	NP_001341275.1:n.1159+60_1159+63del
NM_001733.6:c.1117+60_1117+63del	NP_001724.4:n.1117+60_1117+63del
NM_001733.7:c.1117+60_1117+63del MANE Select	NP_001724.4:n.1117+60_1117+63del
NM_001354346.2:c.1159+60_1159+63del	NP_001341275.1:n.1159+60_1159+63del