Canonical Allele Identifier: CA1876862480

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120954209_120954210delinsAG , CM000671.2:g.120954209_120954210delinsAG	GRCh38
NC_000009.11:g.123716487_123716488delinsAG , CM000671.1:g.123716487_123716488delinsAG	GRCh37
NC_000009.10:g.122756308_122756309delinsAG	NCBI36
NG_007364.1:g.101067_101068delinsCT , LRG_28:g.101067_101068delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.4871_4872delinsCT
ENST00000696279.1:c.5083-342_5083-341delinsCT
ENST00000696280.1:n.4852-342_4852-341delinsCT
ENST00000696281.1:c.4781-342_4781-341delinsCT	ENSP00000512521.1:n.4781-342_4781-341delinsCT
ENST00000697921.1:n.3641-342_3641-341delinsCT
ENST00000697922.1:c.*4753-342_*4753-341delinsCT	ENSP00000513478.1:n.*4753-342_*4753-341delinsCT
ENST00000697923.1:n.8282_8283delinsCT
ENST00000223642.3:c.4763-342_4763-341delinsCT MANE Select	ENSP00000223642.1:n.4763-342_4763-341delinsCT
ENST00000223642.2:c.4763-342_4763-341delinsCT	ENSP00000223642.1:n.4763-342_4763-341delinsCT
NM_001735.2:c.4763-342_4763-341delinsCT , LRG_28t1:c.4763-342_4763-341delinsCT	NP_001726.2:n.4763-342_4763-341delinsCT
XM_011518980.1:c.4778-342_4778-341delinsCT	XP_011517282.1:n.4778-342_4778-341delinsCT
NM_001317163.1:c.4781-342_4781-341delinsCT	NP_001304092.1:n.4781-342_4781-341delinsCT
NM_001317163.2:c.4781-342_4781-341delinsCT	NP_001304092.1:n.4781-342_4781-341delinsCT
NM_001735.3:c.4763-342_4763-341delinsCT MANE Select	NP_001726.2:n.4763-342_4763-341delinsCT