Canonical Allele Identifier: CA1638223818
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600364_73600365delinsCT , CM000668.2:g.73600364_73600365delinsCT GRCh38
NC_000006.11:g.74310087_74310088delinsCT , CM000668.1:g.74310087_74310088delinsCT GRCh37
NC_000006.10:g.74366808_74366809delinsCT NCBI36
NG_008272.1:g.58650_58651delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1336_1337delinsAG MANE Select ENSP00000348019.5:p.Ser446=
ENST00000355773.5:c.1336_1337delinsAG ENSP00000348019.5:p.Ser446=
NM_012434.4:c.1336_1337delinsAG NP_036566.1:p.Ser446=
XM_005248710.2:c.1285_1286delinsAG XP_005248767.1:p.Ser429=
XM_005248711.1:c.1138_1139delinsAG XP_005248768.1:p.Ser380=
XM_011535750.1:c.1188_1189delinsAG XP_011534052.1:p.Lys396=
NM_012434.5:c.1336_1337delinsAG MANE Select NP_036566.1:p.Ser446=
NM_001382629.1:c.1105_1106delinsAG NP_001369558.1:p.Ser369=
NM_001382630.1:c.1260-5151_1260-5150delinsAG NP_001369559.1:n.1260-5151_1260-5150delinsAG
NM_001382631.1:c.1357_1358delinsAG NP_001369560.1:p.Ser453=
NM_001382632.1:c.1249_1250delinsAG NP_001369561.1:p.Ser417=
NM_001382633.1:c.1336_1337delinsAG NP_001369562.1:p.Ser446=
NM_001382634.1:c.1177_1178delinsAG NP_001369563.1:p.Ser393=
NM_001382635.1:c.1333_1334delinsAG NP_001369564.1:p.Ser445=
NM_001382636.1:c.1018_1019delinsAG NP_001369565.1:p.Ser340=