Canonical Allele Identifier: CA1616755237

Gene: SLC17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25787624_25787626delinsTAC , CM000668.2:g.25787624_25787626delinsTAC	GRCh38
NC_000006.11:g.25787852_25787854delinsTAC , CM000668.1:g.25787852_25787854delinsTAC	GRCh37
NC_000006.10:g.25895831_25895833delinsTAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.*3-4408_*3-4406delinsGTA MANE Select	ENSP00000244527.4:n.*3-4408_*3-4406delinsGTA
ENST00000244527.8:c.*3-4408_*3-4406delinsGTA	ENSP00000244527.4:n.*3-4408_*3-4406delinsGTA
ENST00000377886.6:c.*658-4408_*658-4406delinsGTA	ENSP00000367118.2:n.*658-4408_*658-4406delinsGTA
NM_005074.3:c.*3-4408_*3-4406delinsGTA	NP_005065.2:n.*3-4408_*3-4406delinsGTA
XM_011514818.1:c.1179-4408_1179-4406delinsGTA	XP_011513120.1:n.1179-4408_1179-4406delinsGTA
XM_011514818.2:c.1329-4408_1329-4406delinsGTA	XP_011513120.2:n.1329-4408_1329-4406delinsGTA
XM_017011200.1:c.*3-4408_*3-4406delinsGTA	XP_016866689.1:n.*3-4408_*3-4406delinsGTA
XM_017011201.2:c.*2+11157_*2+11159delinsGTA	XP_016866690.1:n.*2+11157_*2+11159delinsGTA
NM_005074.5:c.*3-4408_*3-4406delinsGTA MANE Select	NP_005065.2:n.*3-4408_*3-4406delinsGTA