Canonical Allele Identifier: CA823417020

Gene: SLC17A1

Linked Data

• dbSNP Id: rs1265878324
• MyVariant Identifiers: chr6:g.25787699_25787700insAATTAATC (hg19) ; chr6:g.25787471_25787472insAATTAATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25787473_25787480dup , CM000668.2:g.25787473_25787480dup	GRCh38
NC_000006.11:g.25787701_25787708dup , CM000668.1:g.25787701_25787708dup	GRCh37
NC_000006.10:g.25895680_25895687dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.*3-4261_*3-4254dup MANE Select	ENSP00000244527.4:n.*3-4261_*3-4254dup
ENST00000244527.8:c.*3-4261_*3-4254dup	ENSP00000244527.4:n.*3-4261_*3-4254dup
ENST00000377886.6:c.*658-4261_*658-4254dup	ENSP00000367118.2:n.*658-4261_*658-4254dup
NM_005074.3:c.*3-4261_*3-4254dup	NP_005065.2:n.*3-4261_*3-4254dup
XM_011514818.1:c.1179-4261_1179-4254dup	XP_011513120.1:n.1179-4261_1179-4254dup
XM_011514818.2:c.1329-4261_1329-4254dup	XP_011513120.2:n.1329-4261_1329-4254dup
XM_017011200.1:c.*3-4261_*3-4254dup	XP_016866689.1:n.*3-4261_*3-4254dup
XM_017011201.2:c.*2+11304_*2+11311dup	XP_016866690.1:n.*2+11304_*2+11311dup
NM_005074.5:c.*3-4261_*3-4254dup MANE Select	NP_005065.2:n.*3-4261_*3-4254dup