Canonical Allele Identifier: CA917781248

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1562000876

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644559del , CM000668.2:g.73644559del	GRCh38
NC_000006.11:g.74354282del , CM000668.1:g.74354282del	GRCh37
NC_000006.10:g.74411003del	NCBI36
NG_008272.1:g.14461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.144del MANE Select	ENSP00000348019.5:p.Phe48LeufsTer11
ENST00000355773.5:c.144del	ENSP00000348019.5:p.Phe48LeufsTer11
NM_012434.4:c.144del	NP_036566.1:p.Phe48LeufsTer11
XM_005248710.2:c.93del	XP_005248767.1:p.Phe31LeufsTer11
XM_005248711.1:c.-55del	XP_005248768.1:n.-55del
XM_011535750.1:c.144del	XP_011534052.1:p.Phe48LeufsTer11
XM_011535751.1:c.144del	XP_011534053.1:p.Phe48LeufsTer11
NM_012434.5:c.144del MANE Select	NP_036566.1:p.Phe48LeufsTer11
NM_001382629.1:c.61-2630del	NP_001369558.1:n.61-2630del
NM_001382630.1:c.144del	NP_001369559.1:p.Phe48LeufsTer11
NM_001382631.1:c.165del	NP_001369560.1:p.Phe55LeufsTer11
NM_001382632.1:c.144del	NP_001369561.1:p.Phe48LeufsTer11
NM_001382633.1:c.144del	NP_001369562.1:p.Phe48LeufsTer11
NM_001382634.1:c.144del	NP_001369563.1:p.Phe48LeufsTer11
NM_001382635.1:c.144del	NP_001369564.1:p.Phe48LeufsTer11
NM_001382636.1:c.61-2630del	NP_001369565.1:n.61-2630del