Canonical Allele Identifier: CA1616755266

Gene: SLC17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25787703_25787704delinsAG , CM000668.2:g.25787703_25787704delinsAG	GRCh38
NC_000006.11:g.25787931_25787932delinsAG , CM000668.1:g.25787931_25787932delinsAG	GRCh37
NC_000006.10:g.25895910_25895911delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.*3-4486_*3-4485delinsCT MANE Select	ENSP00000244527.4:n.*3-4486_*3-4485delinsCT
ENST00000244527.8:c.*3-4486_*3-4485delinsCT	ENSP00000244527.4:n.*3-4486_*3-4485delinsCT
ENST00000377886.6:c.*658-4486_*658-4485delinsCT	ENSP00000367118.2:n.*658-4486_*658-4485delinsCT
NM_005074.3:c.*3-4486_*3-4485delinsCT	NP_005065.2:n.*3-4486_*3-4485delinsCT
XM_011514818.1:c.1179-4486_1179-4485delinsCT	XP_011513120.1:n.1179-4486_1179-4485delinsCT
XM_011514818.2:c.1329-4486_1329-4485delinsCT	XP_011513120.2:n.1329-4486_1329-4485delinsCT
XM_017011200.1:c.*3-4486_*3-4485delinsCT	XP_016866689.1:n.*3-4486_*3-4485delinsCT
XM_017011201.2:c.*2+11079_*2+11080delinsCT	XP_016866690.1:n.*2+11079_*2+11080delinsCT
NM_005074.5:c.*3-4486_*3-4485delinsCT MANE Select	NP_005065.2:n.*3-4486_*3-4485delinsCT