Canonical Allele Identifier: CA1876862593

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120954561_120954564delinsCTTT , CM000671.2:g.120954561_120954564delinsCTTT	GRCh38
NC_000009.11:g.123716839_123716842delinsCTTT , CM000671.1:g.123716839_123716842delinsCTTT	GRCh37
NC_000009.10:g.122756660_122756663delinsCTTT	NCBI36
NG_007364.1:g.100713_100716delinsAAAG , LRG_28:g.100713_100716delinsAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.4517_4520delinsAAAG
ENST00000696279.1:c.5083-696_5083-693delinsAAAG
ENST00000696280.1:n.4852-696_4852-693delinsAAAG
ENST00000696281.1:c.4781-696_4781-693delinsAAAG	ENSP00000512521.1:n.4781-696_4781-693delinsAAAG
ENST00000697921.1:n.3641-696_3641-693delinsAAAG
ENST00000697922.1:c.*4753-696_*4753-693delinsAAAG	ENSP00000513478.1:n.*4753-696_*4753-693delinsAAAG
ENST00000697923.1:n.7928_7931delinsAAAG
ENST00000223642.3:c.4763-696_4763-693delinsAAAG MANE Select	ENSP00000223642.1:n.4763-696_4763-693delinsAAAG
ENST00000223642.2:c.4763-696_4763-693delinsAAAG	ENSP00000223642.1:n.4763-696_4763-693delinsAAAG
NM_001735.2:c.4763-696_4763-693delinsAAAG , LRG_28t1:c.4763-696_4763-693delinsAAAG	NP_001726.2:n.4763-696_4763-693delinsAAAG
XM_011518980.1:c.4778-696_4778-693delinsAAAG	XP_011517282.1:n.4778-696_4778-693delinsAAAG
NM_001317163.1:c.4781-696_4781-693delinsAAAG	NP_001304092.1:n.4781-696_4781-693delinsAAAG
NM_001317163.2:c.4781-696_4781-693delinsAAAG	NP_001304092.1:n.4781-696_4781-693delinsAAAG
NM_001735.3:c.4763-696_4763-693delinsAAAG MANE Select	NP_001726.2:n.4763-696_4763-693delinsAAAG