Canonical Allele Identifier: CA2575008905

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307317del , CM000673.2:g.121307317del	GRCh38
NC_000011.9:g.121178026del , CM000673.1:g.121178026del	GRCh37
NC_000011.8:g.120683236del	NCBI36
NG_009446.1:g.19639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.705del MANE Select	ENSP00000264027.4:p.Phe236LeufsTer?
ENST00000264027.8:c.705del	ENSP00000264027.4:p.Phe236LeufsTer?
ENST00000392789.2:c.705del	ENSP00000376539.2:p.Phe236LeufsTer?
ENST00000527183.1:n.998del
ENST00000534230.5:c.631+74del	ENSP00000432550.1:n.631+74del
NM_001024956.2:c.705del	NP_001020127.1:p.Phe236LeufsTer?
NM_006918.4:c.705del	NP_008849.2:p.Phe236LeufsTer?
NM_006918.5:c.705del MANE Select	NP_008849.2:p.Phe236LeufsTer?
NM_001024956.3:c.705del	NP_001020127.1:p.Phe236LeufsTer?