Canonical Allele Identifier: CA16041089
Gene: SLC17A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371435
ClinVar RCV Id: RCV000409761
dbSNP Id: rs1057517269

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73644483del , CM000668.2:g.73644483del GRCh38
NC_000006.10:g.74410927del NCBI36
NC_000006.11:g.74354206del , CM000668.1:g.74354206del GRCh37
NG_008272.1:g.14532del

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.5:c.215del ENSP00000348019.5:p.Thr72LysfsTer3
NM_012434.4:c.215del VV NP_036566.1:p.Thr72LysfsTer3
XM_005248710.2:c.164del XP_005248767.1:p.Thr55LysfsTer3
XM_005248711.1:c.17del XP_005248768.1:p.Thr6LysfsTer3
XM_011535750.1:c.215del XP_011534052.1:p.Thr72LysfsTer3
XM_011535751.1:c.215del XP_011534053.1:p.Thr72LysfsTer3