Canonical Allele Identifier: CA2587871693
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679064_6679070del , CM000681.2:g.6679064_6679070del GRCh38
NC_000019.9:g.6679075_6679081del , CM000681.1:g.6679075_6679081del GRCh37
NC_000019.8:g.6630075_6630081del NCBI36
NG_009557.1:g.46587_46593del , LRG_27:g.46587_46593del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2978+60_2978+66del
ENST00000695653.1:c.2539+60_2539+66del ENSP00000512084.1:n.2539+60_2539+66del
ENST00000695654.1:c.3655+60_3655+66del ENSP00000512085.1:n.3655+60_3655+66del
ENST00000695689.1:c.601+60_601+66del ENSP00000512101.1:n.601+60_601+66del
ENST00000695690.1:n.1695+60_1695+66del
ENST00000695691.1:n.1491+60_1491+66del
ENST00000245907.11:c.4630+60_4630+66del MANE Select ENSP00000245907.4:n.4630+60_4630+66del
ENST00000245907.10:c.4630+60_4630+66del ENSP00000245907.4:n.4630+60_4630+66del
ENST00000599668.1:n.250+60_250+66del
ENST00000599899.5:n.1589+60_1589+66del
ENST00000601008.1:c.242-1107_242-1101del ENSP00000471384.1:n.242-1107_242-1101del
ENST00000602229.1:c.77+60_77+66del
NM_000064.3:c.4630+60_4630+66del NP_000055.2:n.4630+60_4630+66del
NM_000064.4:c.4630+60_4630+66del MANE Select NP_000055.2:n.4630+60_4630+66del