Canonical Allele Identifier: CA2506207256
Gene: GC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71756857_71756858insGT , CM000666.2:g.71756857_71756858insGT GRCh38
NC_000004.11:g.72622574_72622575insGT , CM000666.1:g.72622574_72622575insGT GRCh37
NC_000004.10:g.72841438_72841439insGT NCBI36
NG_012837.2:g.53663_53664insAC
NG_012837.3:g.53663_53664insAC

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.888_889insAC MANE Select ENSP00000273951.8:p.Glu297ThrfsTer?
ENST00000273951.12:c.888_889insAC ENSP00000273951.8:p.Glu297ThrfsTer?
ENST00000503472.5:n.772_773insAC
ENST00000504199.5:c.945_946insAC ENSP00000421725.1:p.Glu316ThrfsTer?
ENST00000509740.5:c.888_889insAC ENSP00000422664.1:p.Glu297ThrfsTer?
ENST00000513476.5:c.888_889insAC ENSP00000426683.1:p.Glu297ThrfsTer?
NM_000583.3:c.888_889insAC NP_000574.2:p.Glu297ThrfsTer?
NM_001204306.1:c.888_889insAC NP_001191235.1:p.Glu297ThrfsTer?
NM_001204307.1:c.945_946insAC NP_001191236.1:p.Glu316ThrfsTer?
XM_006714177.2:c.888_889insAC XP_006714240.1:p.Glu297ThrfsTer?
XM_006714177.3:c.888_889insAC XP_006714240.1:p.Glu297ThrfsTer?
NM_000583.4:c.888_889insAC MANE Select NP_000574.2:p.Glu297ThrfsTer?