Canonical Allele Identifier: CA1876884248

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121006773_121006774delinsAT , CM000671.2:g.121006773_121006774delinsAT	GRCh38
NC_000009.11:g.123769051_123769052delinsAT , CM000671.1:g.123769051_123769052delinsAT	GRCh37
NC_000009.10:g.122808872_122808873delinsAT	NCBI36
NG_007364.1:g.48503_48504delinsAT , LRG_28:g.48503_48504delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.1417+130_1417+131delinsAT	ENSP00000513491.1:n.1417+130_1417+131delinsAT
ENST00000696279.1:c.2742+130_2742+131delinsAT
ENST00000696280.1:n.2511+130_2511+131delinsAT
ENST00000696281.1:c.2440+130_2440+131delinsAT	ENSP00000512521.1:n.2440+130_2440+131delinsAT
ENST00000697921.1:n.1300+130_1300+131delinsAT
ENST00000697922.1:c.*2412+130_*2412+131delinsAT	ENSP00000513478.1:n.*2412+130_*2412+131delinsAT
ENST00000697923.1:n.3027+130_3027+131delinsAT
ENST00000223642.3:c.2422+130_2422+131delinsAT MANE Select	ENSP00000223642.1:n.2422+130_2422+131delinsAT
ENST00000223642.2:c.2422+130_2422+131delinsAT	ENSP00000223642.1:n.2422+130_2422+131delinsAT
ENST00000466280.1:n.25+130_25+131delinsAT
NM_001735.2:c.2422+130_2422+131delinsAT , LRG_28t1:c.2422+130_2422+131delinsAT	NP_001726.2:n.2422+130_2422+131delinsAT
XM_011518980.1:c.2437+130_2437+131delinsAT	XP_011517282.1:n.2437+130_2437+131delinsAT
XM_011518981.1:c.2440+130_2440+131delinsAT	XP_011517283.1:n.2440+130_2440+131delinsAT
NM_001317163.1:c.2440+130_2440+131delinsAT	NP_001304092.1:n.2440+130_2440+131delinsAT
NM_001317164.1:c.2422+130_2422+131delinsAT	NP_001304093.1:n.2422+130_2422+131delinsAT
NM_001317163.2:c.2440+130_2440+131delinsAT	NP_001304092.1:n.2440+130_2440+131delinsAT
NM_001317164.2:c.2422+130_2422+131delinsAT	NP_001304093.1:n.2422+130_2422+131delinsAT
NM_001735.3:c.2422+130_2422+131delinsAT MANE Select	NP_001726.2:n.2422+130_2422+131delinsAT