Canonical Allele Identifier: CA859575925

Gene: C5

Linked Data

• dbSNP Id: rs1256830861
• gnomAD v3: 9-120963095-CTCT-C
• gnomAD v4: 9-120963095-CTCT-C
• MyVariant Identifiers: chr9:g.123725374_123725376del (hg19) ; chr9:g.120963096_120963098del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120963100_120963102del , CM000671.2:g.120963100_120963102del	GRCh38
NC_000009.11:g.123725378_123725380del , CM000671.1:g.123725378_123725380del	GRCh37
NC_000009.10:g.122765199_122765201del	NCBI36
NG_007364.1:g.92179_92181del , LRG_28:g.92179_92181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1358-131_1358-129del
ENST00000696279.1:c.4644-131_4644-129del
ENST00000696280.1:n.4413-131_4413-129del
ENST00000696281.1:c.4342-131_4342-129del	ENSP00000512521.1:n.4342-131_4342-129del
ENST00000697921.1:n.3202-131_3202-129del
ENST00000697922.1:c.*4314-131_*4314-129del	ENSP00000513478.1:n.*4314-131_*4314-129del
ENST00000697923.1:n.4769-131_4769-129del
ENST00000223642.3:c.4324-131_4324-129del MANE Select	ENSP00000223642.1:n.4324-131_4324-129del
ENST00000223642.2:c.4324-131_4324-129del	ENSP00000223642.1:n.4324-131_4324-129del
NM_001735.2:c.4324-131_4324-129del , LRG_28t1:c.4324-131_4324-129del	NP_001726.2:n.4324-131_4324-129del
XM_011518980.1:c.4339-131_4339-129del	XP_011517282.1:n.4339-131_4339-129del
NM_001317163.1:c.4342-131_4342-129del	NP_001304092.1:n.4342-131_4342-129del
NM_001317163.2:c.4342-131_4342-129del	NP_001304092.1:n.4342-131_4342-129del
NM_001735.3:c.4324-131_4324-129del MANE Select	NP_001726.2:n.4324-131_4324-129del