Canonical Allele Identifier: CA1638223788

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1766998688

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600349_73600350insT , CM000668.2:g.73600349_73600350insT	GRCh38
NC_000006.11:g.74310072_74310073insT , CM000668.1:g.74310072_74310073insT	GRCh37
NC_000006.10:g.74366793_74366794insT	NCBI36
NG_008272.1:g.58665_58666insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1350+1_1350+2insA MANE Select	ENSP00000348019.5:n.1350+1_1350+2insA
ENST00000355773.5:c.1350+1_1350+2insA	ENSP00000348019.5:n.1350+1_1350+2insA
NM_012434.4:c.1350+1_1350+2insA	NP_036566.1:n.1350+1_1350+2insA
XM_005248710.2:c.1299+1_1299+2insA	XP_005248767.1:n.1299+1_1299+2insA
XM_005248711.1:c.1152+1_1152+2insA	XP_005248768.1:n.1152+1_1152+2insA
XM_011535750.1:c.*8+1_*8+2insA	XP_011534052.1:n.*8+1_*8+2insA
NM_012434.5:c.1350+1_1350+2insA MANE Select	NP_036566.1:n.1350+1_1350+2insA
NM_001382629.1:c.1119+1_1119+2insA	NP_001369558.1:n.1119+1_1119+2insA
NM_001382630.1:c.1260-5136_1260-5135insA	NP_001369559.1:n.1260-5136_1260-5135insA
NM_001382631.1:c.1371+1_1371+2insA	NP_001369560.1:n.1371+1_1371+2insA
NM_001382632.1:c.1263+1_1263+2insA	NP_001369561.1:n.1263+1_1263+2insA
NM_001382633.1:c.1350+1_1350+2insA	NP_001369562.1:n.1350+1_1350+2insA
NM_001382634.1:c.1191+1_1191+2insA	NP_001369563.1:n.1191+1_1191+2insA
NM_001382635.1:c.1347+1_1347+2insA	NP_001369564.1:n.1347+1_1347+2insA
NM_001382636.1:c.1032+1_1032+2insA	NP_001369565.1:n.1032+1_1032+2insA