Canonical Allele Identifier: CA2677591968

Gene: SLC17A1

Linked Data

• gnomAD v4: 6-25812715-G-GCAGTAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812719_25812725dup , CM000668.2:g.25812719_25812725dup	GRCh38
NC_000006.11:g.25812947_25812953dup , CM000668.1:g.25812947_25812953dup	GRCh37
NC_000006.10:g.25920926_25920932dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.897+109_897+115dup MANE Select	ENSP00000244527.4:n.897+109_897+115dup
ENST00000244527.8:c.897+109_897+115dup	ENSP00000244527.4:n.897+109_897+115dup
ENST00000377886.6:c.*148+109_*148+115dup	ENSP00000367118.2:n.*148+109_*148+115dup
ENST00000468082.1:c.735+373_735+379dup	ENSP00000420546.1:n.735+373_735+379dup
ENST00000476801.5:c.897+109_897+115dup	ENSP00000420614.1:n.897+109_897+115dup
NM_005074.3:c.897+109_897+115dup	NP_005065.2:n.897+109_897+115dup
XM_011514818.1:c.897+109_897+115dup	XP_011513120.1:n.897+109_897+115dup
XM_011514819.1:c.810+109_810+115dup	XP_011513121.1:n.810+109_810+115dup
XM_011514820.1:c.735+373_735+379dup	XP_011513122.1:n.735+373_735+379dup
XM_011514821.1:c.684+109_684+115dup	XP_011513123.1:n.684+109_684+115dup
XM_011514818.2:c.1047+109_1047+115dup	XP_011513120.2:n.1047+109_1047+115dup
XM_011514819.2:c.960+109_960+115dup	XP_011513121.2:n.960+109_960+115dup
XM_011514820.2:c.885+373_885+379dup	XP_011513122.2:n.885+373_885+379dup
XM_011514821.2:c.684+109_684+115dup	XP_011513123.1:n.684+109_684+115dup
XM_017011199.1:c.1047+109_1047+115dup	XP_016866688.1:n.1047+109_1047+115dup
XM_017011200.1:c.1047+109_1047+115dup	XP_016866689.1:n.1047+109_1047+115dup
XM_017011201.2:c.1047+109_1047+115dup	XP_016866690.1:n.1047+109_1047+115dup
XM_017011202.1:c.963+109_963+115dup	XP_016866691.1:n.963+109_963+115dup
NM_005074.5:c.897+109_897+115dup MANE Select	NP_005065.2:n.897+109_897+115dup