Canonical Allele Identifier: CA823427255

Gene: SLC17A1

Linked Data

• dbSNP Id: rs1355511704
• MyVariant Identifiers: chr6:g.25813179del (hg19) ; chr6:g.25812951del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812952del , CM000668.2:g.25812952del	GRCh38
NC_000006.11:g.25813180del , CM000668.1:g.25813180del	GRCh37
NC_000006.10:g.25921159del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.777del MANE Select	ENSP00000244527.4:p.Lys260SerfsTer22
ENST00000244527.8:c.777del	ENSP00000244527.4:p.Lys260SerfsTer22
ENST00000377886.6:c.*28del	ENSP00000367118.2:n.*28del
ENST00000468082.1:c.735+144del	ENSP00000420546.1:n.735+144del
ENST00000476801.5:c.777del	ENSP00000420614.1:p.Lys260SerfsTer22
NM_005074.3:c.777del	NP_005065.2:p.Lys260SerfsTer22
XM_011514818.1:c.777del	XP_011513120.1:p.Lys260SerfsTer22
XM_011514819.1:c.690del	XP_011513121.1:p.Lys231SerfsTer22
XM_011514820.1:c.735+144del	XP_011513122.1:n.735+144del
XM_011514821.1:c.564del	XP_011513123.1:p.Lys189SerfsTer22
XM_011514818.2:c.927del	XP_011513120.2:p.Lys310SerfsTer22
XM_011514819.2:c.840del	XP_011513121.2:p.Lys281SerfsTer22
XM_011514820.2:c.885+144del	XP_011513122.2:n.885+144del
XM_011514821.2:c.564del	XP_011513123.1:p.Lys189SerfsTer22
XM_017011199.1:c.927del	XP_016866688.1:p.Lys310SerfsTer22
XM_017011200.1:c.927del	XP_016866689.1:p.Lys310SerfsTer22
XM_017011201.2:c.927del	XP_016866690.1:p.Lys310SerfsTer22
XM_017011202.1:c.843del	XP_016866691.1:p.Lys282SerfsTer22
NM_005074.5:c.777del MANE Select	NP_005065.2:p.Lys260SerfsTer22