Canonical Allele Identifier: CA2695206670

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600407del , CM000668.2:g.73600407del	GRCh38
NC_000006.11:g.74310130del , CM000668.1:g.74310130del	GRCh37
NC_000006.10:g.74366851del	NCBI36
NG_008272.1:g.58610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1296del MANE Select	ENSP00000348019.5:p.Phe432LeufsTer16
ENST00000355773.5:c.1296del	ENSP00000348019.5:p.Phe432LeufsTer16
NM_012434.4:c.1296del	NP_036566.1:p.Phe432LeufsTer16
XM_005248710.2:c.1245del	XP_005248767.1:p.Phe415LeufsTer16
XM_005248711.1:c.1098del	XP_005248768.1:p.Phe366LeufsTer16
XM_011535750.1:c.1148del	XP_011534052.1:p.Leu383CysfsTer13
NM_012434.5:c.1296del MANE Select	NP_036566.1:p.Phe432LeufsTer16
NM_001382629.1:c.1065del	NP_001369558.1:p.Phe355LeufsTer16
NM_001382630.1:c.1260-5191del	NP_001369559.1:n.1260-5191del
NM_001382631.1:c.1317del	NP_001369560.1:p.Phe439LeufsTer16
NM_001382632.1:c.1209del	NP_001369561.1:p.Phe403LeufsTer16
NM_001382633.1:c.1296del	NP_001369562.1:p.Phe432LeufsTer16
NM_001382634.1:c.1137del	NP_001369563.1:p.Phe379LeufsTer16
NM_001382635.1:c.1293del	NP_001369564.1:p.Phe431LeufsTer16
NM_001382636.1:c.978del	NP_001369565.1:p.Phe326LeufsTer16