Canonical Allele Identifier: CA2557288947

Gene: SLC17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812696_25812697insAAGGCA , CM000668.2:g.25812696_25812697insAAGGCA	GRCh38
NC_000006.11:g.25812924_25812925insAAGGCA , CM000668.1:g.25812924_25812925insAAGGCA	GRCh37
NC_000006.10:g.25920903_25920904insAAGGCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.897+134_897+135insTGCCTT MANE Select	ENSP00000244527.4:n.897+134_897+135insTGCCTT
ENST00000244527.8:c.897+134_897+135insTGCCTT	ENSP00000244527.4:n.897+134_897+135insTGCCTT
ENST00000377886.6:c.*148+134_*148+135insTGCCTT	ENSP00000367118.2:n.*148+134_*148+135insTGCCTT
ENST00000468082.1:c.735+398_735+399insTGCCTT	ENSP00000420546.1:n.735+398_735+399insTGCCTT
ENST00000476801.5:c.897+134_897+135insTGCCTT	ENSP00000420614.1:n.897+134_897+135insTGCCTT
NM_005074.3:c.897+134_897+135insTGCCTT	NP_005065.2:n.897+134_897+135insTGCCTT
XM_011514818.1:c.897+134_897+135insTGCCTT	XP_011513120.1:n.897+134_897+135insTGCCTT
XM_011514819.1:c.810+134_810+135insTGCCTT	XP_011513121.1:n.810+134_810+135insTGCCTT
XM_011514820.1:c.735+398_735+399insTGCCTT	XP_011513122.1:n.735+398_735+399insTGCCTT
XM_011514821.1:c.684+134_684+135insTGCCTT	XP_011513123.1:n.684+134_684+135insTGCCTT
XM_011514818.2:c.1047+134_1047+135insTGCCTT	XP_011513120.2:n.1047+134_1047+135insTGCCTT
XM_011514819.2:c.960+134_960+135insTGCCTT	XP_011513121.2:n.960+134_960+135insTGCCTT
XM_011514820.2:c.885+398_885+399insTGCCTT	XP_011513122.2:n.885+398_885+399insTGCCTT
XM_011514821.2:c.684+134_684+135insTGCCTT	XP_011513123.1:n.684+134_684+135insTGCCTT
XM_017011199.1:c.1047+134_1047+135insTGCCTT	XP_016866688.1:n.1047+134_1047+135insTGCCTT
XM_017011200.1:c.1047+134_1047+135insTGCCTT	XP_016866689.1:n.1047+134_1047+135insTGCCTT
XM_017011201.2:c.1047+134_1047+135insTGCCTT	XP_016866690.1:n.1047+134_1047+135insTGCCTT
XM_017011202.1:c.963+134_963+135insTGCCTT	XP_016866691.1:n.963+134_963+135insTGCCTT
NM_005074.5:c.897+134_897+135insTGCCTT MANE Select	NP_005065.2:n.897+134_897+135insTGCCTT