Canonical Allele Identifier: CA2691480545

Gene: C5

Linked Data

• gnomAD v4: 9-120963100-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120963100_120963101insAA , CM000671.2:g.120963100_120963101insAA	GRCh38
NC_000009.11:g.123725378_123725379insAA , CM000671.1:g.123725378_123725379insAA	GRCh37
NC_000009.10:g.122765199_122765200insAA	NCBI36
NG_007364.1:g.92176_92177insTT , LRG_28:g.92176_92177insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1358-134_1358-133insTT
ENST00000696279.1:c.4644-134_4644-133insTT
ENST00000696280.1:n.4413-134_4413-133insTT
ENST00000696281.1:c.4342-134_4342-133insTT	ENSP00000512521.1:n.4342-134_4342-133insTT
ENST00000697921.1:n.3202-134_3202-133insTT
ENST00000697922.1:c.*4314-134_*4314-133insTT	ENSP00000513478.1:n.*4314-134_*4314-133insTT
ENST00000697923.1:n.4769-134_4769-133insTT
ENST00000223642.3:c.4324-134_4324-133insTT MANE Select	ENSP00000223642.1:n.4324-134_4324-133insTT
ENST00000223642.2:c.4324-134_4324-133insTT	ENSP00000223642.1:n.4324-134_4324-133insTT
NM_001735.2:c.4324-134_4324-133insTT , LRG_28t1:c.4324-134_4324-133insTT	NP_001726.2:n.4324-134_4324-133insTT
XM_011518980.1:c.4339-134_4339-133insTT	XP_011517282.1:n.4339-134_4339-133insTT
NM_001317163.1:c.4342-134_4342-133insTT	NP_001304092.1:n.4342-134_4342-133insTT
NM_001317163.2:c.4342-134_4342-133insTT	NP_001304092.1:n.4342-134_4342-133insTT
NM_001735.3:c.4324-134_4324-133insTT MANE Select	NP_001726.2:n.4324-134_4324-133insTT