Canonical Allele Identifier: CA2691480546

Gene: C5

Linked Data

• gnomAD v4: 9-120963100-CTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120963101_120963103del , CM000671.2:g.120963101_120963103del	GRCh38
NC_000009.11:g.123725379_123725381del , CM000671.1:g.123725379_123725381del	GRCh37
NC_000009.10:g.122765200_122765202del	NCBI36
NG_007364.1:g.92174_92176del , LRG_28:g.92174_92176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1358-136_1358-134del
ENST00000696279.1:c.4644-136_4644-134del
ENST00000696280.1:n.4413-136_4413-134del
ENST00000696281.1:c.4342-136_4342-134del	ENSP00000512521.1:n.4342-136_4342-134del
ENST00000697921.1:n.3202-136_3202-134del
ENST00000697922.1:c.*4314-136_*4314-134del	ENSP00000513478.1:n.*4314-136_*4314-134del
ENST00000697923.1:n.4769-136_4769-134del
ENST00000223642.3:c.4324-136_4324-134del MANE Select	ENSP00000223642.1:n.4324-136_4324-134del
ENST00000223642.2:c.4324-136_4324-134del	ENSP00000223642.1:n.4324-136_4324-134del
NM_001735.2:c.4324-136_4324-134del , LRG_28t1:c.4324-136_4324-134del	NP_001726.2:n.4324-136_4324-134del
XM_011518980.1:c.4339-136_4339-134del	XP_011517282.1:n.4339-136_4339-134del
NM_001317163.1:c.4342-136_4342-134del	NP_001304092.1:n.4342-136_4342-134del
NM_001317163.2:c.4342-136_4342-134del	NP_001304092.1:n.4342-136_4342-134del
NM_001735.3:c.4324-136_4324-134del MANE Select	NP_001726.2:n.4324-136_4324-134del