Canonical Allele Identifier: CA2617391362
Gene: C1R HGNC NCBI

Linked Data

gnomAD v4: 12-7086346-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7086350del , CM000674.2:g.7086350del GRCh38
NG_062465.1:g.11261del

Transcript Alleles

HGVS Amino-acid change
ENST00000647956.2:c.1117+32del MANE Select ENSP00000497341.1:n.1117+32del
ENST00000648162.1:n.1089+32del
ENST00000649804.1:c.211+32del ENSP00000497938.1:n.211+32del
ENST00000535233.6:c.1015+32del ENSP00000438636.3:n.1015+32del
ENST00000536053.6:c.1159+32del ENSP00000444271.3:n.1159+32del
ENST00000540394.5:n.2182+32del
ENST00000542285.5:c.1117+32del ENSP00000438615.2:n.1117+32del
ENST00000602298.2:n.1466+32del
NM_001733.4:c.1117+32del NP_001724.3:n.1117+32del
NM_001354346.1:c.1159+32del NP_001341275.1:n.1159+32del
NM_001733.6:c.1117+32del NP_001724.4:n.1117+32del
NM_001733.7:c.1117+32del MANE Select NP_001724.4:n.1117+32del
NM_001354346.2:c.1159+32del NP_001341275.1:n.1159+32del
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