Canonical Allele Identifier: CA2587872278

Gene: C3

Linked Data

• gnomAD v4: 19-6682295-G-GACCTCCTTGTCCAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682297_6682298insCTCCTTGTCCAGGAAC , CM000681.2:g.6682297_6682298insCTCCTTGTCCAGGAAC	GRCh38
NC_000019.9:g.6682308_6682309insCTCCTTGTCCAGGAAC , CM000681.1:g.6682308_6682309insCTCCTTGTCCAGGAAC	GRCh37
NC_000019.8:g.6633308_6633309insCTCCTTGTCCAGGAAC	NCBI36
NG_009557.1:g.43356_43357insTCCTGGACAAGGAGGT , LRG_27:g.43356_43357insTCCTGGACAAGGAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2521-67_2521-66insTCCTGGACAAGGAGGT
ENST00000695653.1:c.2082-67_2082-66insTCCTGGACAAGGAGGT	ENSP00000512084.1:n.2082-67_2082-66insTCCTGGACAAGGAGGT
ENST00000695654.1:c.3198-67_3198-66insTCCTGGACAAGGAGGT	ENSP00000512085.1:n.3198-67_3198-66insTCCTGGACAAGGAGGT
ENST00000695689.1:c.144-67_144-66insTCCTGGACAAGGAGGT	ENSP00000512101.1:n.144-67_144-66insTCCTGGACAAGGAGGT
ENST00000695690.1:n.364-67_364-66insTCCTGGACAAGGAGGT
ENST00000695691.1:n.364-67_364-66insTCCTGGACAAGGAGGT
ENST00000245907.11:c.4173-67_4173-66insTCCTGGACAAGGAGGT MANE Select	ENSP00000245907.4:n.4173-67_4173-66insTCCTGGACAAGGAGGT
ENST00000245907.10:c.4173-67_4173-66insTCCTGGACAAGGAGGT	ENSP00000245907.4:n.4173-67_4173-66insTCCTGGACAAGGAGGT
ENST00000596548.1:c.294-67_294-66insTCCTGGACAAGGAGGT	ENSP00000469744.1:n.294-67_294-66insTCCTGGACAAGGAGGT
ENST00000599899.5:n.1065_1066insTCCTGGACAAGGAGGT
ENST00000601008.1:c.242-4338_242-4337insTCCTGGACAAGGAGGT	ENSP00000471384.1:n.242-4338_242-4337insTCCTGGACAAGGAGGT
NM_000064.3:c.4173-67_4173-66insTCCTGGACAAGGAGGT	NP_000055.2:n.4173-67_4173-66insTCCTGGACAAGGAGGT
NM_000064.4:c.4173-67_4173-66insTCCTGGACAAGGAGGT MANE Select	NP_000055.2:n.4173-67_4173-66insTCCTGGACAAGGAGGT