Canonical Allele Identifier: CA1876862447

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120954120_120954122delinsCTT , CM000671.2:g.120954120_120954122delinsCTT	GRCh38
NC_000009.11:g.123716398_123716400delinsCTT , CM000671.1:g.123716398_123716400delinsCTT	GRCh37
NC_000009.10:g.122756219_122756221delinsCTT	NCBI36
NG_007364.1:g.101155_101157delinsAAG , LRG_28:g.101155_101157delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.4959_4961delinsAAG
ENST00000696279.1:c.5083-254_5083-252delinsAAG
ENST00000696280.1:n.4852-254_4852-252delinsAAG
ENST00000696281.1:c.4781-254_4781-252delinsAAG	ENSP00000512521.1:n.4781-254_4781-252delinsAAG
ENST00000697921.1:n.3641-254_3641-252delinsAAG
ENST00000697922.1:c.*4753-254_*4753-252delinsAAG	ENSP00000513478.1:n.*4753-254_*4753-252delinsAAG
ENST00000697923.1:n.8370_8372delinsAAG
ENST00000223642.3:c.4763-254_4763-252delinsAAG MANE Select	ENSP00000223642.1:n.4763-254_4763-252delinsAAG
ENST00000223642.2:c.4763-254_4763-252delinsAAG	ENSP00000223642.1:n.4763-254_4763-252delinsAAG
NM_001735.2:c.4763-254_4763-252delinsAAG , LRG_28t1:c.4763-254_4763-252delinsAAG	NP_001726.2:n.4763-254_4763-252delinsAAG
XM_011518980.1:c.4778-254_4778-252delinsAAG	XP_011517282.1:n.4778-254_4778-252delinsAAG
NM_001317163.1:c.4781-254_4781-252delinsAAG	NP_001304092.1:n.4781-254_4781-252delinsAAG
NM_001317163.2:c.4781-254_4781-252delinsAAG	NP_001304092.1:n.4781-254_4781-252delinsAAG
NM_001735.3:c.4763-254_4763-252delinsAAG MANE Select	NP_001726.2:n.4763-254_4763-252delinsAAG