Canonical Allele Identifier: CA2564242268
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962979_120962980insCAC , CM000671.2:g.120962979_120962980insCAC GRCh38
NC_000009.11:g.123725257_123725258insCAC , CM000671.1:g.123725257_123725258insCAC GRCh37
NC_000009.10:g.122765078_122765079insCAC NCBI36
NG_007364.1:g.92297_92298insGTG , LRG_28:g.92297_92298insGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1358-13_1358-12insGTG
ENST00000696279.1:c.4644-13_4644-12insGTG
ENST00000696280.1:n.4413-13_4413-12insGTG
ENST00000696281.1:c.4342-13_4342-12insGTG ENSP00000512521.1:n.4342-13_4342-12insGTG
ENST00000697921.1:n.3202-13_3202-12insGTG
ENST00000697922.1:c.*4314-13_*4314-12insGTG ENSP00000513478.1:n.*4314-13_*4314-12insGTG
ENST00000697923.1:n.4769-13_4769-12insGTG
ENST00000223642.3:c.4324-13_4324-12insGTG MANE Select ENSP00000223642.1:n.4324-13_4324-12insGTG
ENST00000223642.2:c.4324-13_4324-12insGTG ENSP00000223642.1:n.4324-13_4324-12insGTG
NM_001735.2:c.4324-13_4324-12insGTG , LRG_28t1:c.4324-13_4324-12insGTG NP_001726.2:n.4324-13_4324-12insGTG
XM_011518980.1:c.4339-13_4339-12insGTG XP_011517282.1:n.4339-13_4339-12insGTG
NM_001317163.1:c.4342-13_4342-12insGTG NP_001304092.1:n.4342-13_4342-12insGTG
NM_001317163.2:c.4342-13_4342-12insGTG NP_001304092.1:n.4342-13_4342-12insGTG
NM_001735.3:c.4324-13_4324-12insGTG MANE Select NP_001726.2:n.4324-13_4324-12insGTG