Canonical Allele Identifier: CA2004808857

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303407_121303408delinsAT , CM000673.2:g.121303407_121303408delinsAT	GRCh38
NC_000011.9:g.121174116_121174117delinsAT , CM000673.1:g.121174116_121174117delinsAT	GRCh37
NC_000011.8:g.120679326_120679327delinsAT	NCBI36
NG_009446.1:g.15729_15730delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.32_33delinsAT MANE Select	ENSP00000264027.4:p.Tyr11=
ENST00000264027.8:c.32_33delinsAT	ENSP00000264027.4:p.Tyr11=
ENST00000392789.2:c.32_33delinsAT	ENSP00000376539.2:p.Tyr11=
ENST00000524683.5:n.88_89delinsAT
ENST00000527762.5:c.32_33delinsAT	ENSP00000436290.1:p.Tyr11=
ENST00000531140.1:n.100_101delinsAT
ENST00000534230.5:c.32_33delinsAT	ENSP00000432550.1:p.Tyr11=
ENST00000534455.5:n.178_179delinsAT
NM_001024956.2:c.32_33delinsAT	NP_001020127.1:p.Tyr11=
NM_006918.4:c.32_33delinsAT	NP_008849.2:p.Tyr11=
NM_006918.5:c.32_33delinsAT MANE Select	NP_008849.2:p.Tyr11=
NM_001024956.3:c.32_33delinsAT	NP_001020127.1:p.Tyr11=