Canonical Allele Identifier: CA2573141127

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1447940
• ClinVar RCV Id: RCV002012026
• dbSNP Id: rs2150099225

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621807_73621819del , CM000668.2:g.73621807_73621819del	GRCh38
NC_000006.11:g.74331530_74331542del , CM000668.1:g.74331530_74331542del	GRCh37
NC_000006.10:g.74388251_74388263del	NCBI36
NG_008272.1:g.37197_37209del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.964_976del MANE Select	ENSP00000348019.5:p.Phe322ArgfsTer11
ENST00000355773.5:c.964_976del	ENSP00000348019.5:p.Phe322ArgfsTer11
NM_012434.4:c.964_976del	NP_036566.1:p.Phe322ArgfsTer11
XM_005248710.2:c.913_925del	XP_005248767.1:p.Phe305ArgfsTer11
XM_005248711.1:c.766_778del	XP_005248768.1:p.Phe256ArgfsTer11
XM_011535750.1:c.964_976del	XP_011534052.1:p.Phe322ArgfsTer11
NM_012434.5:c.964_976del MANE Select	NP_036566.1:p.Phe322ArgfsTer11
NM_001382629.1:c.733_745del	NP_001369558.1:p.Phe245ArgfsTer11
NM_001382630.1:c.964_976del	NP_001369559.1:p.Phe322ArgfsTer11
NM_001382631.1:c.985_997del	NP_001369560.1:p.Phe329ArgfsTer11
NM_001382632.1:c.877_889del	NP_001369561.1:p.Phe293ArgfsTer11
NM_001382633.1:c.964_976del	NP_001369562.1:p.Phe322ArgfsTer11
NM_001382634.1:c.820-6371_820-6359del	NP_001369563.1:n.820-6371_820-6359del
NM_001382635.1:c.961_973del	NP_001369564.1:p.Phe321ArgfsTer11
NM_001382636.1:c.646_658del	NP_001369565.1:p.Phe216ArgfsTer11