Canonical Allele Identifier: CA1616755179

Gene: SLC17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25787460_25787462delinsTAA , CM000668.2:g.25787460_25787462delinsTAA	GRCh38
NC_000006.11:g.25787688_25787690delinsTAA , CM000668.1:g.25787688_25787690delinsTAA	GRCh37
NC_000006.10:g.25895667_25895669delinsTAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.*3-4244_*3-4242delinsTTA MANE Select	ENSP00000244527.4:n.*3-4244_*3-4242delinsTTA
ENST00000244527.8:c.*3-4244_*3-4242delinsTTA	ENSP00000244527.4:n.*3-4244_*3-4242delinsTTA
ENST00000377886.6:c.*658-4244_*658-4242delinsTTA	ENSP00000367118.2:n.*658-4244_*658-4242delinsTTA
NM_005074.3:c.*3-4244_*3-4242delinsTTA	NP_005065.2:n.*3-4244_*3-4242delinsTTA
XM_011514818.1:c.1179-4244_1179-4242delinsTTA	XP_011513120.1:n.1179-4244_1179-4242delinsTTA
XM_011514818.2:c.1329-4244_1329-4242delinsTTA	XP_011513120.2:n.1329-4244_1329-4242delinsTTA
XM_017011200.1:c.*3-4244_*3-4242delinsTTA	XP_016866689.1:n.*3-4244_*3-4242delinsTTA
XM_017011201.2:c.*2+11321_*2+11323delinsTTA	XP_016866690.1:n.*2+11321_*2+11323delinsTTA
NM_005074.5:c.*3-4244_*3-4242delinsTTA MANE Select	NP_005065.2:n.*3-4244_*3-4242delinsTTA