Canonical Allele Identifier: CA1638222763
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73641519_73641520delinsCA , CM000668.2:g.73641519_73641520delinsCA GRCh38
NC_000006.11:g.74351242_74351243delinsCA , CM000668.1:g.74351242_74351243delinsCA GRCh37
NC_000006.10:g.74407963_74407964delinsCA NCBI36
NG_008272.1:g.17495_17496delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.525+171_525+172delinsTG MANE Select ENSP00000348019.5:n.525+171_525+172delinsTG
ENST00000355773.5:c.525+171_525+172delinsTG ENSP00000348019.5:n.525+171_525+172delinsTG
ENST00000481996.1:n.291+171_291+172delinsTG
NM_012434.4:c.525+171_525+172delinsTG NP_036566.1:n.525+171_525+172delinsTG
XM_005248710.2:c.474+171_474+172delinsTG XP_005248767.1:n.474+171_474+172delinsTG
XM_005248711.1:c.327+171_327+172delinsTG XP_005248768.1:n.327+171_327+172delinsTG
XM_011535750.1:c.525+171_525+172delinsTG XP_011534052.1:n.525+171_525+172delinsTG
XM_011535751.1:c.525+171_525+172delinsTG XP_011534053.1:n.525+171_525+172delinsTG
NM_012434.5:c.525+171_525+172delinsTG MANE Select NP_036566.1:n.525+171_525+172delinsTG
NM_001382629.1:c.294+171_294+172delinsTG NP_001369558.1:n.294+171_294+172delinsTG
NM_001382630.1:c.525+171_525+172delinsTG NP_001369559.1:n.525+171_525+172delinsTG
NM_001382631.1:c.546+171_546+172delinsTG NP_001369560.1:n.546+171_546+172delinsTG
NM_001382632.1:c.525+171_525+172delinsTG NP_001369561.1:n.525+171_525+172delinsTG
NM_001382633.1:c.525+171_525+172delinsTG NP_001369562.1:n.525+171_525+172delinsTG
NM_001382634.1:c.525+171_525+172delinsTG NP_001369563.1:n.525+171_525+172delinsTG
NM_001382635.1:c.525+171_525+172delinsTG NP_001369564.1:n.525+171_525+172delinsTG
NM_001382636.1:c.294+171_294+172delinsTG NP_001369565.1:n.294+171_294+172delinsTG