Canonical Allele Identifier: CA2587878436

Gene: C3

Linked Data

• gnomAD v4: 19-6713646-C-CCTCCTCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713646_6713647insCTCCTCTT , CM000681.2:g.6713646_6713647insCTCCTCTT	GRCh38
NC_000019.9:g.6713657_6713658insCTCCTCTT , CM000681.1:g.6713657_6713658insCTCCTCTT	GRCh37
NC_000019.8:g.6664657_6664658insCTCCTCTT	NCBI36
NG_009557.1:g.12005_12006insAAGAGGAG , LRG_27:g.12005_12006insAAGAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.651-138_651-137insAAGAGGAG	ENSP00000512083.1:n.651-138_651-137insAAGAGGAG
ENST00000245907.11:c.774-138_774-137insAAGAGGAG MANE Select	ENSP00000245907.4:n.774-138_774-137insAAGAGGAG
ENST00000245907.10:c.774-138_774-137insAAGAGGAG	ENSP00000245907.4:n.774-138_774-137insAAGAGGAG
ENST00000595577.1:n.278-138_278-137insAAGAGGAG
ENST00000597442.5:n.23+119_23+120insAAGAGGAG
NM_000064.3:c.774-138_774-137insAAGAGGAG	NP_000055.2:n.774-138_774-137insAAGAGGAG
NM_000064.4:c.774-138_774-137insAAGAGGAG MANE Select	NP_000055.2:n.774-138_774-137insAAGAGGAG