Canonical Allele Identifier: CA2681074572

Gene: SLC22A3

Linked Data

• gnomAD v4: 6-160437200-TCTTAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160437202_160437206del , CM000668.2:g.160437202_160437206del	GRCh38
NC_000006.11:g.160858234_160858238del , CM000668.1:g.160858234_160858238del	GRCh37
NC_000006.10:g.160778224_160778228del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275300.3:c.1279_1283del MANE Select	ENSP00000275300.2:p.Leu427ArgfsTer23
ENST00000275300.2:c.1279_1283del	ENSP00000275300.2:p.Leu427ArgfsTer23
NM_021977.3:c.1279_1283del	NP_068812.1:p.Leu427ArgfsTer23
XM_005267106.3:c.886_890del	XP_005267163.1:p.Leu296ArgfsTer23
XM_011536075.1:c.823_827del	XP_011534377.1:p.Leu275ArgfsTer23
XM_011536076.1:c.823_827del	XP_011534378.1:p.Leu275ArgfsTer23
XM_011536077.1:c.823_827del	XP_011534379.1:p.Leu275ArgfsTer23
XR_245546.1:n.1018-5559_1018-5555del
XM_005267106.5:c.886_890del	XP_005267163.1:p.Leu296ArgfsTer23
XM_011536075.2:c.823_827del	XP_011534377.1:p.Leu275ArgfsTer23
XM_011536076.3:c.823_827del	XP_011534378.1:p.Leu275ArgfsTer23
XM_017011203.2:c.823_827del	XP_016866692.1:p.Leu275ArgfsTer23
XR_001743588.1:n.1223_1227del
XR_001743589.1:n.1018-5559_1018-5555del
NM_021977.4:c.1279_1283del MANE Select	NP_068812.1:p.Leu427ArgfsTer23