Canonical Allele Identifier: CA1876865960
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120963095_120963098delinsCTCT , CM000671.2:g.120963095_120963098delinsCTCT GRCh38
NC_000009.11:g.123725373_123725376delinsCTCT , CM000671.1:g.123725373_123725376delinsCTCT GRCh37
NC_000009.10:g.122765194_122765197delinsCTCT NCBI36
NG_007364.1:g.92179_92182delinsAGAG , LRG_28:g.92179_92182delinsAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1358-131_1358-128delinsAGAG
ENST00000696279.1:c.4644-131_4644-128delinsAGAG
ENST00000696280.1:n.4413-131_4413-128delinsAGAG
ENST00000696281.1:c.4342-131_4342-128delinsAGAG ENSP00000512521.1:n.4342-131_4342-128delinsAGAG
ENST00000697921.1:n.3202-131_3202-128delinsAGAG
ENST00000697922.1:c.*4314-131_*4314-128delinsAGAG ENSP00000513478.1:n.*4314-131_*4314-128delinsAGAG
ENST00000697923.1:n.4769-131_4769-128delinsAGAG
ENST00000223642.3:c.4324-131_4324-128delinsAGAG MANE Select ENSP00000223642.1:n.4324-131_4324-128delinsAGAG
ENST00000223642.2:c.4324-131_4324-128delinsAGAG ENSP00000223642.1:n.4324-131_4324-128delinsAGAG
NM_001735.2:c.4324-131_4324-128delinsAGAG , LRG_28t1:c.4324-131_4324-128delinsAGAG NP_001726.2:n.4324-131_4324-128delinsAGAG
XM_011518980.1:c.4339-131_4339-128delinsAGAG XP_011517282.1:n.4339-131_4339-128delinsAGAG
NM_001317163.1:c.4342-131_4342-128delinsAGAG NP_001304092.1:n.4342-131_4342-128delinsAGAG
NM_001317163.2:c.4342-131_4342-128delinsAGAG NP_001304092.1:n.4342-131_4342-128delinsAGAG
NM_001735.3:c.4324-131_4324-128delinsAGAG MANE Select NP_001726.2:n.4324-131_4324-128delinsAGAG