Canonical Allele Identifier: CA2793893026

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307307_121307308insAA , CM000673.2:g.121307307_121307308insAA	GRCh38
NC_000011.9:g.121178016_121178017insAA , CM000673.1:g.121178016_121178017insAA	GRCh37
NC_000011.8:g.120683226_120683227insAA	NCBI36
NG_009446.1:g.19629_19630insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.695_696insAA MANE Select	ENSP00000264027.4:p.His232GlnfsTer?
ENST00000264027.8:c.695_696insAA	ENSP00000264027.4:p.His232GlnfsTer?
ENST00000392789.2:c.695_696insAA	ENSP00000376539.2:p.His232GlnfsTer?
ENST00000527183.1:n.988_989insAA
ENST00000534230.5:c.631+64_631+65insAA	ENSP00000432550.1:n.631+64_631+65insAA
NM_001024956.2:c.695_696insAA	NP_001020127.1:p.His232GlnfsTer?
NM_006918.4:c.695_696insAA	NP_008849.2:p.His232GlnfsTer?
NM_006918.5:c.695_696insAA MANE Select	NP_008849.2:p.His232GlnfsTer?
NM_001024956.3:c.695_696insAA	NP_001020127.1:p.His232GlnfsTer?