Canonical Allele Identifier: CA2320568130

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713750_6713764delinsCACTCCCAGCCCCCA , CM000681.2:g.6713750_6713764delinsCACTCCCAGCCCCCA	GRCh38
NC_000019.9:g.6713761_6713775delinsCACTCCCAGCCCCCA , CM000681.1:g.6713761_6713775delinsCACTCCCAGCCCCCA	GRCh37
NC_000019.8:g.6664761_6664775delinsCACTCCCAGCCCCCA	NCBI36
NG_009557.1:g.11888_11902delinsTGGGGGCTGGGAGTG , LRG_27:g.11888_11902delinsTGGGGGCTGGGAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.650+228_651-241delinsTGGGGGCTGGGAGTG	ENSP00000512083.1:n.650+228_651-241delinsTGGGGGCTGGGAGTG
ENST00000245907.11:c.773+228_774-241delinsTGGGGGCTGGGAGTG MANE Select	ENSP00000245907.4:n.773+228_774-241delinsTGGGGGCTGGGAGTG
ENST00000245907.10:c.773+228_774-241delinsTGGGGGCTGGGAGTG	ENSP00000245907.4:n.773+228_774-241delinsTGGGGGCTGGGAGTG
ENST00000595577.1:n.277+228_278-241delinsTGGGGGCTGGGAGTG
ENST00000597442.5:n.23+2_23+16delinsTGGGGGCTGGGAGTG
NM_000064.3:c.773+228_774-241delinsTGGGGGCTGGGAGTG	NP_000055.2:n.773+228_774-241delinsTGGGGGCTGGGAGTG
NM_000064.4:c.773+228_774-241delinsTGGGGGCTGGGAGTG MANE Select	NP_000055.2:n.773+228_774-241delinsTGGGGGCTGGGAGTG