Canonical Allele Identifier: CA263927
Gene: SLC17A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 56556
ClinVar RCV Id: RCV000049969
dbSNP Id: rs386833992

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73641709del , CM000668.2:g.73641709del GRCh38
NC_000006.11:g.74351432del , CM000668.1:g.74351432del GRCh37
NC_000006.10:g.74408153del NCBI36
NG_008272.1:g.17306del

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.507del MANE Select ENSP00000348019.5:p.Leu170Ter
ENST00000355773.5:c.507del ENSP00000348019.5:p.Leu170Ter
ENST00000481996.1:n.273del
NM_012434.4:c.507del NP_036566.1:p.Leu170Ter
XM_005248710.2:c.456del XP_005248767.1:p.Leu153Ter
XM_005248711.1:c.309del XP_005248768.1:p.Leu104Ter
XM_011535750.1:c.507del XP_011534052.1:p.Leu170Ter
XM_011535751.1:c.507del XP_011534053.1:p.Leu170Ter
NM_012434.5:c.507del MANE Select NP_036566.1:p.Leu170Ter
NM_001382629.1:c.276del NP_001369558.1:p.Leu93Ter
NM_001382630.1:c.507del NP_001369559.1:p.Leu170Ter
NM_001382631.1:c.528del NP_001369560.1:p.Leu177Ter
NM_001382632.1:c.507del NP_001369561.1:p.Leu170Ter
NM_001382633.1:c.507del NP_001369562.1:p.Leu170Ter
NM_001382634.1:c.507del NP_001369563.1:p.Leu170Ter
NM_001382635.1:c.507del NP_001369564.1:p.Leu170Ter
NM_001382636.1:c.276del NP_001369565.1:p.Leu93Ter