Canonical Allele Identifier: CA6328216

Gene: SC5D

Linked Data

• dbSNP Id: rs777129164
• ExAC: 11:121178008 TACAG / T
• gnomAD v2: 11-121178008-TACAG-T
• MyVariant Identifiers: chr11:g.121178009_121178012del (hg19) ; chr11:g.121307300_121307303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307302_121307305del , CM000673.2:g.121307302_121307305del	GRCh38
NC_000011.9:g.121178011_121178014del , CM000673.1:g.121178011_121178014del	GRCh37
NC_000011.8:g.120683221_120683224del	NCBI36
NG_009446.1:g.19624_19627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.690_693del MANE Select	ENSP00000264027.4:p.Asp231ThrfsTer?
ENST00000264027.8:c.690_693del	ENSP00000264027.4:p.Asp231ThrfsTer?
ENST00000392789.2:c.690_693del	ENSP00000376539.2:p.Asp231ThrfsTer?
ENST00000527183.1:n.983_986del
ENST00000534230.5:c.631+59_631+62del	ENSP00000432550.1:n.631+59_631+62del
NM_001024956.2:c.690_693del	NP_001020127.1:p.Asp231ThrfsTer?
NM_006918.4:c.690_693del	NP_008849.2:p.Asp231ThrfsTer?
NM_006918.5:c.690_693del MANE Select	NP_008849.2:p.Asp231ThrfsTer?
NM_001024956.3:c.690_693del	NP_001020127.1:p.Asp231ThrfsTer?