Canonical Allele Identifier: CA2576591841
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6684958_6684959del , CM000681.2:g.6684958_6684959del GRCh38
NC_000019.9:g.6684969_6684970del , CM000681.1:g.6684969_6684970del GRCh37
NC_000019.8:g.6635969_6635970del NCBI36
NG_009557.1:g.40695_40696del , LRG_27:g.40695_40696del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2317+31_2317+32del
ENST00000695653.1:c.1878+31_1878+32del ENSP00000512084.1:n.1878+31_1878+32del
ENST00000695654.1:c.2994+31_2994+32del ENSP00000512085.1:n.2994+31_2994+32del
ENST00000695690.1:n.160+31_160+32del
ENST00000695691.1:n.160+31_160+32del
ENST00000245907.11:c.3969+31_3969+32del MANE Select ENSP00000245907.4:n.3969+31_3969+32del
ENST00000245907.10:c.3969+31_3969+32del ENSP00000245907.4:n.3969+31_3969+32del
ENST00000596238.1:n.412+31_412+32del
ENST00000596548.1:c.51+31_51+32del ENSP00000469744.1:n.51+31_51+32del
ENST00000601008.1:c.241+1789_241+1790del ENSP00000471384.1:n.241+1789_241+1790del
NM_000064.3:c.3969+31_3969+32del NP_000055.2:n.3969+31_3969+32del
NM_000064.4:c.3969+31_3969+32del MANE Select NP_000055.2:n.3969+31_3969+32del