Canonical Allele Identifier: CA2785814267

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120974772del , CM000671.2:g.120974772del	GRCh38
NC_000009.11:g.123737050del , CM000671.1:g.123737050del	GRCh37
NC_000009.10:g.122776871del	NCBI36
NG_007364.1:g.80505del , LRG_28:g.80505del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.928+7del
ENST00000696279.1:c.4337+7del
ENST00000696280.1:n.4106+7del
ENST00000696281.1:c.4035+7del	ENSP00000512521.1:n.4035+7del
ENST00000697921.1:n.2895+7del
ENST00000697922.1:c.*4007+7del	ENSP00000513478.1:n.*4007+7del
ENST00000697923.1:n.4462+7del
ENST00000223642.3:c.4017+7del MANE Select	ENSP00000223642.1:n.4017+7del
ENST00000223642.2:c.4017+7del	ENSP00000223642.1:n.4017+7del
NM_001735.2:c.4017+7del , LRG_28t1:c.4017+7del	NP_001726.2:n.4017+7del
XM_011518980.1:c.4032+7del	XP_011517282.1:n.4032+7del
NM_001317163.1:c.4035+7del	NP_001304092.1:n.4035+7del
NM_001317163.2:c.4035+7del	NP_001304092.1:n.4035+7del
NM_001735.3:c.4017+7del MANE Select	NP_001726.2:n.4017+7del