Canonical Allele Identifier: CA2565139397
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73644372_73644378del , CM000668.2:g.73644372_73644378del GRCh38
NC_000006.11:g.74354095_74354101del , CM000668.1:g.74354095_74354101del GRCh37
NC_000006.10:g.74410816_74410822del NCBI36
NG_008272.1:g.14638_14644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.291+30_291+36del MANE Select ENSP00000348019.5:n.291+30_291+36del
ENST00000355773.5:c.291+30_291+36del ENSP00000348019.5:n.291+30_291+36del
ENST00000481996.1:n.57+30_57+36del
NM_012434.4:c.291+30_291+36del NP_036566.1:n.291+30_291+36del
XM_005248710.2:c.240+30_240+36del XP_005248767.1:n.240+30_240+36del
XM_005248711.1:c.93+30_93+36del XP_005248768.1:n.93+30_93+36del
XM_011535750.1:c.291+30_291+36del XP_011534052.1:n.291+30_291+36del
XM_011535751.1:c.291+30_291+36del XP_011534053.1:n.291+30_291+36del
NM_012434.5:c.291+30_291+36del MANE Select NP_036566.1:n.291+30_291+36del
NM_001382629.1:c.61-2453_61-2447del NP_001369558.1:n.61-2453_61-2447del
NM_001382630.1:c.291+30_291+36del NP_001369559.1:n.291+30_291+36del
NM_001382631.1:c.312+30_312+36del NP_001369560.1:n.312+30_312+36del
NM_001382632.1:c.291+30_291+36del NP_001369561.1:n.291+30_291+36del
NM_001382633.1:c.291+30_291+36del NP_001369562.1:n.291+30_291+36del
NM_001382634.1:c.291+30_291+36del NP_001369563.1:n.291+30_291+36del
NM_001382635.1:c.291+30_291+36del NP_001369564.1:n.291+30_291+36del
NM_001382636.1:c.61-2453_61-2447del NP_001369565.1:n.61-2453_61-2447del