Canonical Allele Identifier: CA2691480467

Gene: C5

Linked Data

• gnomAD v4: 9-120962848-T-TTATATA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962849_120962850insATATAT , CM000671.2:g.120962849_120962850insATATAT	GRCh38
NC_000009.11:g.123725127_123725128insATATAT , CM000671.1:g.123725127_123725128insATATAT	GRCh37
NC_000009.10:g.122764948_122764949insATATAT	NCBI36
NG_007364.1:g.92428_92429insTATATA , LRG_28:g.92428_92429insTATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1432+44_1432+45insTATATA
ENST00000696279.1:c.4718+44_4718+45insTATATA
ENST00000696280.1:n.4487+44_4487+45insTATATA
ENST00000696281.1:c.4416+44_4416+45insTATATA	ENSP00000512521.1:n.4416+44_4416+45insTATATA
ENST00000697921.1:n.3276+44_3276+45insTATATA
ENST00000697922.1:c.*4388+44_*4388+45insTATATA	ENSP00000513478.1:n.*4388+44_*4388+45insTATATA
ENST00000697923.1:n.4843+44_4843+45insTATATA
ENST00000223642.3:c.4398+44_4398+45insTATATA MANE Select	ENSP00000223642.1:n.4398+44_4398+45insTATATA
ENST00000223642.2:c.4398+44_4398+45insTATATA	ENSP00000223642.1:n.4398+44_4398+45insTATATA
NM_001735.2:c.4398+44_4398+45insTATATA , LRG_28t1:c.4398+44_4398+45insTATATA	NP_001726.2:n.4398+44_4398+45insTATATA
XM_011518980.1:c.4413+44_4413+45insTATATA	XP_011517282.1:n.4413+44_4413+45insTATATA
NM_001317163.1:c.4416+44_4416+45insTATATA	NP_001304092.1:n.4416+44_4416+45insTATATA
NM_001317163.2:c.4416+44_4416+45insTATATA	NP_001304092.1:n.4416+44_4416+45insTATATA
NM_001735.3:c.4398+44_4398+45insTATATA MANE Select	NP_001726.2:n.4398+44_4398+45insTATATA