Canonical Allele Identifier: CA2691483612

Gene: C5

Linked Data

• gnomAD v4: 9-121006774-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121006781_121006782dup , CM000671.2:g.121006781_121006782dup	GRCh38
NC_000009.11:g.123769059_123769060dup , CM000671.1:g.123769059_123769060dup	GRCh37
NC_000009.10:g.122808880_122808881dup	NCBI36
NG_007364.1:g.48501_48502dup , LRG_28:g.48501_48502dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.1417+128_1417+129dup	ENSP00000513491.1:n.1417+128_1417+129dup
ENST00000696279.1:c.2742+128_2742+129dup
ENST00000696280.1:n.2511+128_2511+129dup
ENST00000696281.1:c.2440+128_2440+129dup	ENSP00000512521.1:n.2440+128_2440+129dup
ENST00000697921.1:n.1300+128_1300+129dup
ENST00000697922.1:c.*2412+128_*2412+129dup	ENSP00000513478.1:n.*2412+128_*2412+129dup
ENST00000697923.1:n.3027+128_3027+129dup
ENST00000223642.3:c.2422+128_2422+129dup MANE Select	ENSP00000223642.1:n.2422+128_2422+129dup
ENST00000223642.2:c.2422+128_2422+129dup	ENSP00000223642.1:n.2422+128_2422+129dup
ENST00000466280.1:n.25+128_25+129dup
NM_001735.2:c.2422+128_2422+129dup , LRG_28t1:c.2422+128_2422+129dup	NP_001726.2:n.2422+128_2422+129dup
XM_011518980.1:c.2437+128_2437+129dup	XP_011517282.1:n.2437+128_2437+129dup
XM_011518981.1:c.2440+128_2440+129dup	XP_011517283.1:n.2440+128_2440+129dup
NM_001317163.1:c.2440+128_2440+129dup	NP_001304092.1:n.2440+128_2440+129dup
NM_001317164.1:c.2422+128_2422+129dup	NP_001304093.1:n.2422+128_2422+129dup
NM_001317163.2:c.2440+128_2440+129dup	NP_001304092.1:n.2440+128_2440+129dup
NM_001317164.2:c.2422+128_2422+129dup	NP_001304093.1:n.2422+128_2422+129dup
NM_001735.3:c.2422+128_2422+129dup MANE Select	NP_001726.2:n.2422+128_2422+129dup