Canonical Allele Identifier: CA140972068

Gene: SLC17A5

Linked Data

• dbSNP Id: rs34980325

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600368del , CM000668.2:g.73600368del	GRCh38
NC_000006.11:g.74310091del , CM000668.1:g.74310091del	GRCh37
NC_000006.10:g.74366812del	NCBI36
NG_008272.1:g.58650del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1336del MANE Select	ENSP00000348019.5:p.Ser446ValfsTer2
ENST00000355773.5:c.1336del	ENSP00000348019.5:p.Ser446ValfsTer2
NM_012434.4:c.1336del	NP_036566.1:p.Ser446ValfsTer2
XM_005248710.2:c.1285del	XP_005248767.1:p.Ser429ValfsTer2
XM_005248711.1:c.1138del	XP_005248768.1:p.Ser380ValfsTer2
XM_011535750.1:c.1188del	XP_011534052.1:p.Val397SerfsTer4
NM_012434.5:c.1336del MANE Select	NP_036566.1:p.Ser446ValfsTer2
NM_001382629.1:c.1105del	NP_001369558.1:p.Ser369ValfsTer2
NM_001382630.1:c.1260-5151del	NP_001369559.1:n.1260-5151del
NM_001382631.1:c.1357del	NP_001369560.1:p.Ser453ValfsTer2
NM_001382632.1:c.1249del	NP_001369561.1:p.Ser417ValfsTer2
NM_001382633.1:c.1336del	NP_001369562.1:p.Ser446ValfsTer2
NM_001382634.1:c.1177del	NP_001369563.1:p.Ser393ValfsTer2
NM_001382635.1:c.1333del	NP_001369564.1:p.Ser445ValfsTer2
NM_001382636.1:c.1018del	NP_001369565.1:p.Ser340ValfsTer2