Canonical Allele Identifier: CA1616755212

Gene: SLC17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25787575_25787579delinsGTTGT , CM000668.2:g.25787575_25787579delinsGTTGT	GRCh38
NC_000006.11:g.25787803_25787807delinsGTTGT , CM000668.1:g.25787803_25787807delinsGTTGT	GRCh37
NC_000006.10:g.25895782_25895786delinsGTTGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.*3-4361_*3-4357delinsACAAC MANE Select	ENSP00000244527.4:n.*3-4361_*3-4357delinsACAAC
ENST00000244527.8:c.*3-4361_*3-4357delinsACAAC	ENSP00000244527.4:n.*3-4361_*3-4357delinsACAAC
ENST00000377886.6:c.*658-4361_*658-4357delinsACAAC	ENSP00000367118.2:n.*658-4361_*658-4357delinsACAAC
NM_005074.3:c.*3-4361_*3-4357delinsACAAC	NP_005065.2:n.*3-4361_*3-4357delinsACAAC
XM_011514818.1:c.1179-4361_1179-4357delinsACAAC	XP_011513120.1:n.1179-4361_1179-4357delinsACAAC
XM_011514818.2:c.1329-4361_1329-4357delinsACAAC	XP_011513120.2:n.1329-4361_1329-4357delinsACAAC
XM_017011200.1:c.*3-4361_*3-4357delinsACAAC	XP_016866689.1:n.*3-4361_*3-4357delinsACAAC
XM_017011201.2:c.*2+11204_*2+11208delinsACAAC	XP_016866690.1:n.*2+11204_*2+11208delinsACAAC
NM_005074.5:c.*3-4361_*3-4357delinsACAAC MANE Select	NP_005065.2:n.*3-4361_*3-4357delinsACAAC