Canonical Allele Identifier: CA547368039

Gene: SLC33A1

Linked Data

• dbSNP Id: rs1560025754
• gnomAD v2: 3-155571828-TGA-T
• gnomAD v4: 3-155854039-TGA-T
• MyVariant Identifiers: chr3:g.155571829_155571830del (hg19) ; chr3:g.155854040_155854041del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.155854041_155854042del , CM000665.2:g.155854041_155854042del	GRCh38
NC_000003.11:g.155571830_155571831del , CM000665.1:g.155571830_155571831del	GRCh37
NC_000003.10:g.157054524_157054525del	NCBI36
NG_023365.1:g.5419_5420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468581.2:c.-44_-43del	ENSP00000418847.2:n.-44_-43del
ENST00000642438.1:c.-44_-43del	ENSP00000495971.1:n.-44_-43del
ENST00000643144.2:c.-44_-43del MANE Select	ENSP00000496241.1:n.-44_-43del
ENST00000643876.1:c.-44_-43del	ENSP00000495323.1:n.-44_-43del
ENST00000644094.1:c.-44_-43del	ENSP00000494476.1:n.-44_-43del
ENST00000644855.1:c.-44_-43del	ENSP00000493564.1:n.-44_-43del
ENST00000646424.1:c.-44_-43del	ENSP00000494846.1:n.-44_-43del
ENST00000359479.7:c.-44_-43del	ENSP00000352456.3:n.-44_-43del
ENST00000392845.7:c.-44_-43del	ENSP00000376587.2:n.-44_-43del
NM_001190992.1:c.-44_-43del	NP_001177921.1:n.-44_-43del
NM_004733.3:c.-44_-43del	NP_004724.1:n.-44_-43del
XM_006713822.2:c.-44_-43del	XP_006713885.1:n.-44_-43del
XM_011513311.1:c.-44_-43del	XP_011511613.1:n.-44_-43del
XM_011513312.1:c.-44_-43del	XP_011511614.1:n.-44_-43del
NM_001363883.1:c.-44_-43del	NP_001350812.1:n.-44_-43del
XM_011513311.3:c.-44_-43del	XP_011511613.1:n.-44_-43del
XM_017007463.1:c.-669_-668del	XP_016862952.1:n.-669_-668del
XM_017007464.1:c.-669_-668del	XP_016862953.1:n.-669_-668del
XR_001740361.2:n.1318_1319del
XR_001740362.2:n.1318_1319del
XR_002959605.1:n.1318_1319del
NM_004733.4:c.-44_-43del MANE Select	NP_004724.1:n.-44_-43del
NM_001190992.2:c.-44_-43del	NP_001177921.1:n.-44_-43del