Canonical Allele Identifier: CA917781230
Gene: SLC17A5 HGNC NCBI

Linked Data

dbSNP Id: rs1561999616

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73641440del , CM000668.2:g.73641440del GRCh38
NC_000006.11:g.74351163del , CM000668.1:g.74351163del GRCh37
NC_000006.10:g.74407884del NCBI36
NG_008272.1:g.17575del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.525+251del MANE Select ENSP00000348019.5:n.525+251del
ENST00000355773.5:c.525+251del ENSP00000348019.5:n.525+251del
ENST00000481996.1:n.291+251del
NM_012434.4:c.525+251del NP_036566.1:n.525+251del
XM_005248710.2:c.474+251del XP_005248767.1:n.474+251del
XM_005248711.1:c.327+251del XP_005248768.1:n.327+251del
XM_011535750.1:c.525+251del XP_011534052.1:n.525+251del
XM_011535751.1:c.525+251del XP_011534053.1:n.525+251del
NM_012434.5:c.525+251del MANE Select NP_036566.1:n.525+251del
NM_001382629.1:c.294+251del NP_001369558.1:n.294+251del
NM_001382630.1:c.525+251del NP_001369559.1:n.525+251del
NM_001382631.1:c.546+251del NP_001369560.1:n.546+251del
NM_001382632.1:c.525+251del NP_001369561.1:n.525+251del
NM_001382633.1:c.525+251del NP_001369562.1:n.525+251del
NM_001382634.1:c.525+251del NP_001369563.1:n.525+251del
NM_001382635.1:c.525+251del NP_001369564.1:n.525+251del
NM_001382636.1:c.294+251del NP_001369565.1:n.294+251del