Canonical Allele Identifier: CA2580075793

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641738del , CM000668.2:g.73641738del	GRCh38
NC_000006.11:g.74351461del , CM000668.1:g.74351461del	GRCh37
NC_000006.10:g.74408182del	NCBI36
NG_008272.1:g.17278del

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.479del MANE Select	NP_036566.1:p.Gly160GlufsTer11
ENST00000355773.6:c.479del MANE Select	ENSP00000348019.5:p.Gly160GlufsTer11
NM_001382629.1:c.248del	NP_001369558.1:p.Gly83GlufsTer11
NM_001382630.1:c.479del	NP_001369559.1:p.Gly160GlufsTer11
NM_001382631.1:c.500del	NP_001369560.1:p.Gly167GlufsTer11
NM_001382632.1:c.479del	NP_001369561.1:p.Gly160GlufsTer11
NM_001382633.1:c.479del	NP_001369562.1:p.Gly160GlufsTer11
NM_001382634.1:c.479del	NP_001369563.1:p.Gly160GlufsTer11
NM_001382635.1:c.479del	NP_001369564.1:p.Gly160GlufsTer11
NM_001382636.1:c.248del	NP_001369565.1:p.Gly83GlufsTer11
NM_012434.4:c.479del	NP_036566.1:p.Gly160GlufsTer11
ENST00000355773.5:c.479del	ENSP00000348019.5:p.Gly160GlufsTer11
ENST00000481996.1:n.245del
XM_005248710.2:c.428del	XP_005248767.1:p.Gly143GlufsTer11
XM_005248711.1:c.281del	XP_005248768.1:p.Gly94GlufsTer11
XM_011535750.1:c.479del	XP_011534052.1:p.Gly160GlufsTer11
XM_011535751.1:c.479del	XP_011534053.1:p.Gly160GlufsTer11