Canonical Allele Identifier: CA1090523215

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1766991803
• gnomAD v3: 6-73600208-CCATT-C
• gnomAD v4: 6-73600208-CCATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600209_73600212del , CM000668.2:g.73600209_73600212del	GRCh38
NC_000006.11:g.74309932_74309935del , CM000668.1:g.74309932_74309935del	GRCh37
NC_000006.10:g.74366653_74366656del	NCBI36
NG_008272.1:g.58803_58806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1350+139_1350+142del MANE Select	ENSP00000348019.5:n.1350+139_1350+142del
ENST00000355773.5:c.1350+139_1350+142del	ENSP00000348019.5:n.1350+139_1350+142del
NM_012434.4:c.1350+139_1350+142del	NP_036566.1:n.1350+139_1350+142del
XM_005248710.2:c.1299+139_1299+142del	XP_005248767.1:n.1299+139_1299+142del
XM_005248711.1:c.1152+139_1152+142del	XP_005248768.1:n.1152+139_1152+142del
XM_011535750.1:c.*8+139_*8+142del	XP_011534052.1:n.*8+139_*8+142del
NM_012434.5:c.1350+139_1350+142del MANE Select	NP_036566.1:n.1350+139_1350+142del
NM_001382629.1:c.1119+139_1119+142del	NP_001369558.1:n.1119+139_1119+142del
NM_001382630.1:c.1260-4998_1260-4995del	NP_001369559.1:n.1260-4998_1260-4995del
NM_001382631.1:c.1371+139_1371+142del	NP_001369560.1:n.1371+139_1371+142del
NM_001382632.1:c.1263+139_1263+142del	NP_001369561.1:n.1263+139_1263+142del
NM_001382633.1:c.1350+139_1350+142del	NP_001369562.1:n.1350+139_1350+142del
NM_001382634.1:c.1191+139_1191+142del	NP_001369563.1:n.1191+139_1191+142del
NM_001382635.1:c.1347+139_1347+142del	NP_001369564.1:n.1347+139_1347+142del
NM_001382636.1:c.1032+139_1032+142del	NP_001369565.1:n.1032+139_1032+142del