Canonical Allele Identifier: CA2576591662
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679156del , CM000681.2:g.6679156del GRCh38
NC_000019.9:g.6679167del , CM000681.1:g.6679167del GRCh37
NC_000019.8:g.6630167del NCBI36
NG_009557.1:g.46497del , LRG_27:g.46497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2948del
ENST00000695653.1:c.2509del ENSP00000512084.1:p.Asp837ThrfsTer?
ENST00000695654.1:c.3625del ENSP00000512085.1:p.Asp1209ThrfsTer?
ENST00000695689.1:c.571del ENSP00000512101.1:n.571del
ENST00000695690.1:n.1665del
ENST00000695691.1:n.1461del
ENST00000245907.11:c.4600del MANE Select ENSP00000245907.4:p.Asp1534ThrfsTer?
ENST00000245907.10:c.4600del ENSP00000245907.4:p.Asp1534ThrfsTer?
ENST00000599668.1:n.220del
ENST00000599899.5:n.1559del
ENST00000601008.1:c.242-1197del ENSP00000471384.1:n.242-1197del
ENST00000602229.1:c.47del
NM_000064.3:c.4600del NP_000055.2:p.Asp1534ThrfsTer?
NM_000064.4:c.4600del MANE Select NP_000055.2:p.Asp1534ThrfsTer?