Canonical Allele Identifier: CA1638223702

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1766994113
• gnomAD v3: 6-73600258-T-TTCA
• gnomAD v4: 6-73600258-T-TTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600259_73600260insCAT , CM000668.2:g.73600259_73600260insCAT	GRCh38
NC_000006.11:g.74309982_74309983insCAT , CM000668.1:g.74309982_74309983insCAT	GRCh37
NC_000006.10:g.74366703_74366704insCAT	NCBI36
NG_008272.1:g.58756_58757insTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1350+92_1350+93insTGA MANE Select	ENSP00000348019.5:n.1350+92_1350+93insTGA...
ENST00000355773.5:c.1350+92_1350+93insTGA	ENSP00000348019.5:n.1350+92_1350+93insTGA...
NM_012434.4:c.1350+92_1350+93insTGA	NP_036566.1:n.1350+92_1350+93insTGA
XM_005248710.2:c.1299+92_1299+93insTGA	XP_005248767.1:n.1299+92_1299+93insTGA
XM_005248711.1:c.1152+92_1152+93insTGA	XP_005248768.1:n.1152+92_1152+93insTGA
XM_011535750.1:c.*8+92_*8+93insTGA	XP_011534052.1:n.*8+92_*8+93insTGA
NM_012434.5:c.1350+92_1350+93insTGA MANE Select	NP_036566.1:n.1350+92_1350+93insTGA
NM_001382629.1:c.1119+92_1119+93insTGA	NP_001369558.1:n.1119+92_1119+93insTGA
NM_001382630.1:c.1260-5045_1260-5044insTGA	NP_001369559.1:n.1260-5045_1260-5044insTG...
NM_001382631.1:c.1371+92_1371+93insTGA	NP_001369560.1:n.1371+92_1371+93insTGA
NM_001382632.1:c.1263+92_1263+93insTGA	NP_001369561.1:n.1263+92_1263+93insTGA
NM_001382633.1:c.1350+92_1350+93insTGA	NP_001369562.1:n.1350+92_1350+93insTGA
NM_001382634.1:c.1191+92_1191+93insTGA	NP_001369563.1:n.1191+92_1191+93insTGA
NM_001382635.1:c.1347+92_1347+93insTGA	NP_001369564.1:n.1347+92_1347+93insTGA
NM_001382636.1:c.1032+92_1032+93insTGA	NP_001369565.1:n.1032+92_1032+93insTGA