Canonical Allele Identifier: CA1087048813

Gene: SLC17A1

Linked Data

• dbSNP Id: rs1764198990
• gnomAD v3: 6-25812694-CAGTT-C
• gnomAD v4: 6-25812694-CAGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812699_25812702del , CM000668.2:g.25812699_25812702del	GRCh38
NC_000006.11:g.25812927_25812930del , CM000668.1:g.25812927_25812930del	GRCh37
NC_000006.10:g.25920906_25920909del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.897+133_897+136del MANE Select	ENSP00000244527.4:n.897+133_897+136del
ENST00000244527.8:c.897+133_897+136del	ENSP00000244527.4:n.897+133_897+136del
ENST00000377886.6:c.*148+133_*148+136del	ENSP00000367118.2:n.*148+133_*148+136del
ENST00000468082.1:c.735+397_735+400del	ENSP00000420546.1:n.735+397_735+400del
ENST00000476801.5:c.897+133_897+136del	ENSP00000420614.1:n.897+133_897+136del
NM_005074.3:c.897+133_897+136del	NP_005065.2:n.897+133_897+136del
XM_011514818.1:c.897+133_897+136del	XP_011513120.1:n.897+133_897+136del
XM_011514819.1:c.810+133_810+136del	XP_011513121.1:n.810+133_810+136del
XM_011514820.1:c.735+397_735+400del	XP_011513122.1:n.735+397_735+400del
XM_011514821.1:c.684+133_684+136del	XP_011513123.1:n.684+133_684+136del
XM_011514818.2:c.1047+133_1047+136del	XP_011513120.2:n.1047+133_1047+136del
XM_011514819.2:c.960+133_960+136del	XP_011513121.2:n.960+133_960+136del
XM_011514820.2:c.885+397_885+400del	XP_011513122.2:n.885+397_885+400del
XM_011514821.2:c.684+133_684+136del	XP_011513123.1:n.684+133_684+136del
XM_017011199.1:c.1047+133_1047+136del	XP_016866688.1:n.1047+133_1047+136del
XM_017011200.1:c.1047+133_1047+136del	XP_016866689.1:n.1047+133_1047+136del
XM_017011201.2:c.1047+133_1047+136del	XP_016866690.1:n.1047+133_1047+136del
XM_017011202.1:c.963+133_963+136del	XP_016866691.1:n.963+133_963+136del
NM_005074.5:c.897+133_897+136del MANE Select	NP_005065.2:n.897+133_897+136del