Canonical Allele Identifier: CA2668278594

Gene: SLC33A1

Linked Data

• gnomAD v4: 3-155853893-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.155853893_155853894insG , CM000665.2:g.155853893_155853894insG	GRCh38
NC_000003.11:g.155571682_155571683insG , CM000665.1:g.155571682_155571683insG	GRCh37
NC_000003.10:g.157054376_157054377insG	NCBI36
NG_023365.1:g.5566_5567insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468581.2:c.104_105insC	ENSP00000418847.2:p.Trp35CysfsTer3
ENST00000642438.1:c.104_105insC	ENSP00000495971.1:p.Trp35CysfsTer3
ENST00000643144.2:c.104_105insC MANE Select	ENSP00000496241.1:p.Trp35CysfsTer3
ENST00000643876.1:c.104_105insC	ENSP00000495323.1:p.Trp35CysfsTer3
ENST00000644094.1:c.104_105insC	ENSP00000494476.1:p.Trp35CysfsTer3
ENST00000644855.1:c.104_105insC	ENSP00000493564.1:p.Trp35CysfsTer3
ENST00000646424.1:c.104_105insC	ENSP00000494846.1:p.Trp35CysfsTer3
ENST00000359479.7:c.104_105insC	ENSP00000352456.3:p.Trp35CysfsTer3
ENST00000392845.7:c.104_105insC	ENSP00000376587.2:p.Trp35CysfsTer3
NM_001190992.1:c.104_105insC	NP_001177921.1:p.Trp35CysfsTer3
NM_004733.3:c.104_105insC	NP_004724.1:p.Trp35CysfsTer3
XM_006713822.2:c.104_105insC	XP_006713885.1:p.Trp35CysfsTer3
XM_011513311.1:c.104_105insC	XP_011511613.1:p.Trp35CysfsTer3
XM_011513312.1:c.104_105insC	XP_011511614.1:p.Trp35CysfsTer3
NM_001363883.1:c.104_105insC	NP_001350812.1:p.Trp35CysfsTer3
XM_011513311.3:c.104_105insC	XP_011511613.1:p.Trp35CysfsTer3
XM_017007463.1:c.-522_-521insC	XP_016862952.1:n.-522_-521insC
XM_017007464.1:c.-522_-521insC	XP_016862953.1:n.-522_-521insC
XR_001740361.2:n.1465_1466insC
XR_001740362.2:n.1465_1466insC
XR_002959605.1:n.1465_1466insC
NM_004733.4:c.104_105insC MANE Select	NP_004724.1:p.Trp35CysfsTer3
NM_001190992.2:c.104_105insC	NP_001177921.1:p.Trp35CysfsTer3