Canonical Allele Identifier: CA2580083709

Gene: SC5D

Linked Data

• ClinVar Variation Id: 2122710
• ClinVar RCV Id: RCV003054185

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303423_121303424insTGGATGT , CM000673.2:g.121303423_121303424insTGGATGT	GRCh38
NC_000011.9:g.121174132_121174133insTGGATGT , CM000673.1:g.121174132_121174133insTGGATGT	GRCh37
NC_000011.8:g.120679342_120679343insTGGATGT	NCBI36
NG_009446.1:g.15745_15746insTGGATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.48_49insTGGATGT MANE Select	ENSP00000264027.4:p.Val17TrpfsTer12
ENST00000264027.8:c.48_49insTGGATGT	ENSP00000264027.4:p.Val17TrpfsTer12
ENST00000392789.2:c.48_49insTGGATGT	ENSP00000376539.2:p.Val17TrpfsTer12
ENST00000524683.5:n.104_105insTGGATGT
ENST00000527762.5:c.48_49insTGGATGT	ENSP00000436290.1:p.Val17TrpfsTer12
ENST00000531140.1:n.116_117insTGGATGT
ENST00000534230.5:c.48_49insTGGATGT	ENSP00000432550.1:p.Val17TrpfsTer12
ENST00000534455.5:n.194_195insTGGATGT
NM_001024956.2:c.48_49insTGGATGT	NP_001020127.1:p.Val17TrpfsTer12
NM_006918.4:c.48_49insTGGATGT	NP_008849.2:p.Val17TrpfsTer12
NM_006918.5:c.48_49insTGGATGT MANE Select	NP_008849.2:p.Val17TrpfsTer12
NM_001024956.3:c.48_49insTGGATGT	NP_001020127.1:p.Val17TrpfsTer12