Canonical Allele Identifier: CA1876865852

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962830_120962831delinsTC , CM000671.2:g.120962830_120962831delinsTC	GRCh38
NC_000009.11:g.123725108_123725109delinsTC , CM000671.1:g.123725108_123725109delinsTC	GRCh37
NC_000009.10:g.122764929_122764930delinsTC	NCBI36
NG_007364.1:g.92446_92447delinsGA , LRG_28:g.92446_92447delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1433-55_1433-54delinsGA
ENST00000696279.1:c.4719-55_4719-54delinsGA
ENST00000696280.1:n.4488-55_4488-54delinsGA
ENST00000696281.1:c.4417-55_4417-54delinsGA	ENSP00000512521.1:n.4417-55_4417-54delinsGA
ENST00000697921.1:n.3277-55_3277-54delinsGA
ENST00000697922.1:c.*4389-55_*4389-54delinsGA	ENSP00000513478.1:n.*4389-55_*4389-54delinsGA
ENST00000697923.1:n.4844-55_4844-54delinsGA
ENST00000223642.3:c.4399-55_4399-54delinsGA MANE Select	ENSP00000223642.1:n.4399-55_4399-54delinsGA
ENST00000223642.2:c.4399-55_4399-54delinsGA	ENSP00000223642.1:n.4399-55_4399-54delinsGA
NM_001735.2:c.4399-55_4399-54delinsGA , LRG_28t1:c.4399-55_4399-54delinsGA	NP_001726.2:n.4399-55_4399-54delinsGA
XM_011518980.1:c.4414-55_4414-54delinsGA	XP_011517282.1:n.4414-55_4414-54delinsGA
NM_001317163.1:c.4417-55_4417-54delinsGA	NP_001304092.1:n.4417-55_4417-54delinsGA
NM_001317163.2:c.4417-55_4417-54delinsGA	NP_001304092.1:n.4417-55_4417-54delinsGA
NM_001735.3:c.4399-55_4399-54delinsGA MANE Select	NP_001726.2:n.4399-55_4399-54delinsGA