Canonical Allele Identifier: CA645566857

Gene: SLC17A5

Linked Data

• COSMIC: COSM5405824

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610535_73610536delinsAA , CM000668.2:g.73610535_73610536delinsAA	GRCh38
NC_000006.11:g.74320258_74320259delinsAA , CM000668.1:g.74320258_74320259delinsAA	GRCh37
NC_000006.10:g.74376979_74376980delinsAA	NCBI36
NG_008272.1:g.48479_48480delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1123_1124delinsTT MANE Select	ENSP00000348019.5:p.Pro375Phe
ENST00000355773.5:c.1123_1124delinsTT	ENSP00000348019.5:p.Pro375Phe
NM_012434.4:c.1123_1124delinsTT	NP_036566.1:p.Pro375Phe
XM_005248710.2:c.1072_1073delinsTT	XP_005248767.1:p.Pro358Phe
XM_005248711.1:c.925_926delinsTT	XP_005248768.1:p.Pro309Phe
XM_011535750.1:c.1111+4779_1111+4780delinsTT	XP_011534052.1:n.1111+4779_1111+4780delinsTT
NM_012434.5:c.1123_1124delinsTT MANE Select	NP_036566.1:p.Pro375Phe
NM_001382629.1:c.892_893delinsTT	NP_001369558.1:p.Pro298Phe
NM_001382630.1:c.1123_1124delinsTT	NP_001369559.1:p.Pro375Phe
NM_001382631.1:c.1144_1145delinsTT	NP_001369560.1:p.Pro382Phe
NM_001382632.1:c.1036_1037delinsTT	NP_001369561.1:p.Pro346Phe
NM_001382633.1:c.1123_1124delinsTT	NP_001369562.1:p.Pro375Phe
NM_001382634.1:c.964_965delinsTT	NP_001369563.1:p.Pro322Phe
NM_001382635.1:c.1120_1121delinsTT	NP_001369564.1:p.Pro374Phe
NM_001382636.1:c.805_806delinsTT	NP_001369565.1:p.Pro269Phe