Canonical Allele Identifier: CA2320553315

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685902_6685905delinsCAAG , CM000681.2:g.6685902_6685905delinsCAAG	GRCh38
NC_000019.9:g.6685913_6685916delinsCAAG , CM000681.1:g.6685913_6685916delinsCAAG	GRCh37
NC_000019.8:g.6636913_6636916delinsCAAG	NCBI36
NG_009557.1:g.39747_39750delinsCTTG , LRG_27:g.39747_39750delinsCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2158+219_2158+222delinsCTTG
ENST00000695653.1:c.1719+219_1719+222delinsCTTG	ENSP00000512084.1:n.1719+219_1719+222delinsCTTG
ENST00000695654.1:c.2835+219_2835+222delinsCTTG	ENSP00000512085.1:n.2835+219_2835+222delinsCTTG
ENST00000245907.11:c.3810+219_3810+222delinsCTTG MANE Select	ENSP00000245907.4:n.3810+219_3810+222delinsCTTG
ENST00000245907.10:c.3810+219_3810+222delinsCTTG	ENSP00000245907.4:n.3810+219_3810+222delinsCTTG
ENST00000596238.1:n.253+219_253+222delinsCTTG
ENST00000601008.1:c.241+841_241+844delinsCTTG	ENSP00000471384.1:n.241+841_241+844delinsCTTG
NM_000064.3:c.3810+219_3810+222delinsCTTG	NP_000055.2:n.3810+219_3810+222delinsCTTG
NM_000064.4:c.3810+219_3810+222delinsCTTG MANE Select	NP_000055.2:n.3810+219_3810+222delinsCTTG