Canonical Allele Identifier: CA2681074529

Gene: SLC22A3

Linked Data

• gnomAD v4: 6-160436836-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160436840del , CM000668.2:g.160436840del	GRCh38
NC_000006.11:g.160857872del , CM000668.1:g.160857872del	GRCh37
NC_000006.10:g.160777862del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1036del MANE Select	ENSP00000275300.2:p.Gln346LysfsTer2
ENST00000275300.2:c.1036del	ENSP00000275300.2:p.Gln346LysfsTer2
NM_021977.3:c.1036del	NP_068812.1:p.Gln346LysfsTer2
XM_005267106.3:c.643del	XP_005267163.1:p.Gln215LysfsTer2
XM_011536075.1:c.580del	XP_011534377.1:p.Gln194LysfsTer2
XM_011536076.1:c.580del	XP_011534378.1:p.Gln194LysfsTer2
XM_011536077.1:c.580del	XP_011534379.1:p.Gln194LysfsTer2
XR_245546.1:n.1018-5921del
XM_005267106.5:c.643del	XP_005267163.1:p.Gln215LysfsTer2
XM_011536075.2:c.580del	XP_011534377.1:p.Gln194LysfsTer2
XM_011536076.3:c.580del	XP_011534378.1:p.Gln194LysfsTer2
XM_017011203.2:c.580del	XP_016866692.1:p.Gln194LysfsTer2
XR_001743588.1:n.1018-157del
XR_001743589.1:n.1018-5921del
NM_021977.4:c.1036del MANE Select	NP_068812.1:p.Gln346LysfsTer2