Canonical Allele Identifier: CA2320553340
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685946_6685947delinsTC , CM000681.2:g.6685946_6685947delinsTC GRCh38
NC_000019.9:g.6685957_6685958delinsTC , CM000681.1:g.6685957_6685958delinsTC GRCh37
NC_000019.8:g.6636957_6636958delinsTC NCBI36
NG_009557.1:g.39705_39706delinsGA , LRG_27:g.39705_39706delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2158+177_2158+178delinsGA
ENST00000695653.1:c.1719+177_1719+178delinsGA ENSP00000512084.1:n.1719+177_1719+178delinsGA
ENST00000695654.1:c.2835+177_2835+178delinsGA ENSP00000512085.1:n.2835+177_2835+178delinsGA
ENST00000245907.11:c.3810+177_3810+178delinsGA MANE Select ENSP00000245907.4:n.3810+177_3810+178delinsGA
ENST00000245907.10:c.3810+177_3810+178delinsGA ENSP00000245907.4:n.3810+177_3810+178delinsGA
ENST00000596238.1:n.253+177_253+178delinsGA
ENST00000601008.1:c.241+799_241+800delinsGA ENSP00000471384.1:n.241+799_241+800delinsGA
NM_000064.3:c.3810+177_3810+178delinsGA NP_000055.2:n.3810+177_3810+178delinsGA
NM_000064.4:c.3810+177_3810+178delinsGA MANE Select NP_000055.2:n.3810+177_3810+178delinsGA