Canonical Allele Identifier: CA2695198290

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2678778
• ClinVar RCV Id: RCV003472769

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644444del , CM000668.2:g.73644444del	GRCh38
NC_000006.11:g.74354167del , CM000668.1:g.74354167del	GRCh37
NC_000006.10:g.74410888del	NCBI36
NG_008272.1:g.14571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.254del MANE Select	ENSP00000348019.5:p.Glu85GlyfsTer6
ENST00000355773.5:c.254del	ENSP00000348019.5:p.Glu85GlyfsTer6
ENST00000481996.1:n.20del
NM_012434.4:c.254del	NP_036566.1:p.Glu85GlyfsTer6
XM_005248710.2:c.203del	XP_005248767.1:p.Glu68GlyfsTer6
XM_005248711.1:c.56del	XP_005248768.1:p.Glu19GlyfsTer6
XM_011535750.1:c.254del	XP_011534052.1:p.Glu85GlyfsTer6
XM_011535751.1:c.254del	XP_011534053.1:p.Glu85GlyfsTer6
NM_012434.5:c.254del MANE Select	NP_036566.1:p.Glu85GlyfsTer6
NM_001382629.1:c.61-2520del	NP_001369558.1:n.61-2520del
NM_001382630.1:c.254del	NP_001369559.1:p.Glu85GlyfsTer6
NM_001382631.1:c.275del	NP_001369560.1:p.Glu92GlyfsTer6
NM_001382632.1:c.254del	NP_001369561.1:p.Glu85GlyfsTer6
NM_001382633.1:c.254del	NP_001369562.1:p.Glu85GlyfsTer6
NM_001382634.1:c.254del	NP_001369563.1:p.Glu85GlyfsTer6
NM_001382635.1:c.254del	NP_001369564.1:p.Glu85GlyfsTer6
NM_001382636.1:c.61-2520del	NP_001369565.1:n.61-2520del