Canonical Allele Identifier: CA2830548767

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307288_121307289insGT , CM000673.2:g.121307288_121307289insGT	GRCh38
NC_000011.9:g.121177997_121177998insGT , CM000673.1:g.121177997_121177998insGT	GRCh37
NC_000011.8:g.120683207_120683208insGT	NCBI36
NG_009446.1:g.19610_19611insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.676_677insGT MANE Select	ENSP00000264027.4:p.Ser226CysfsTer?
ENST00000264027.8:c.676_677insGT	ENSP00000264027.4:p.Ser226CysfsTer?
ENST00000392789.2:c.676_677insGT	ENSP00000376539.2:p.Ser226CysfsTer?
ENST00000527183.1:n.969_970insGT
ENST00000534230.5:c.631+45_631+46insGT	ENSP00000432550.1:n.631+45_631+46insGT
NM_001024956.2:c.676_677insGT	NP_001020127.1:p.Ser226CysfsTer?
NM_006918.4:c.676_677insGT	NP_008849.2:p.Ser226CysfsTer?
NM_006918.5:c.676_677insGT MANE Select	NP_008849.2:p.Ser226CysfsTer?
NM_001024956.3:c.676_677insGT	NP_001020127.1:p.Ser226CysfsTer?