Canonical Allele Identifier: CA1638223690
Gene: SLC17A5 HGNC NCBI

Linked Data

dbSNP Id: rs1766993698

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600254_73600255insTTCTTTTAA , CM000668.2:g.73600254_73600255insTTCTTTTAA GRCh38
NC_000006.11:g.74309977_74309978insTTCTTTTAA , CM000668.1:g.74309977_74309978insTTCTTTTAA GRCh37
NC_000006.10:g.74366698_74366699insTTCTTTTAA NCBI36
NG_008272.1:g.58762_58763insAAAAGAATT

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.1350+98_1350+99insAAAAGAATT MANE Select ENSP00000348019.5:n.1350+98_1350+99insAAA...
ENST00000355773.5:c.1350+98_1350+99insAAAAGAATT ENSP00000348019.5:n.1350+98_1350+99insAAA...
NM_012434.4:c.1350+98_1350+99insAAAAGAATT NP_036566.1:n.1350+98_1350+99insAAAAGAATT...
XM_005248710.2:c.1299+98_1299+99insAAAAGAATT XP_005248767.1:n.1299+98_1299+99insAAAAGA...
XM_005248711.1:c.1152+98_1152+99insAAAAGAATT XP_005248768.1:n.1152+98_1152+99insAAAAGA...
XM_011535750.1:c.*8+98_*8+99insAAAAGAATT XP_011534052.1:n.*8+98_*8+99insAAAAGAATT
NM_012434.5:c.1350+98_1350+99insAAAAGAATT MANE Select NP_036566.1:n.1350+98_1350+99insAAAAGAATT...
NM_001382629.1:c.1119+98_1119+99insAAAAGAATT NP_001369558.1:n.1119+98_1119+99insAAAAGA...
NM_001382630.1:c.1260-5039_1260-5038insAAAAGAATT NP_001369559.1:n.1260-5039_1260-5038insAA...
NM_001382631.1:c.1371+98_1371+99insAAAAGAATT NP_001369560.1:n.1371+98_1371+99insAAAAGA...
NM_001382632.1:c.1263+98_1263+99insAAAAGAATT NP_001369561.1:n.1263+98_1263+99insAAAAGA...
NM_001382633.1:c.1350+98_1350+99insAAAAGAATT NP_001369562.1:n.1350+98_1350+99insAAAAGA...
NM_001382634.1:c.1191+98_1191+99insAAAAGAATT NP_001369563.1:n.1191+98_1191+99insAAAAGA...
NM_001382635.1:c.1347+98_1347+99insAAAAGAATT NP_001369564.1:n.1347+98_1347+99insAAAAGA...
NM_001382636.1:c.1032+98_1032+99insAAAAGAATT NP_001369565.1:n.1032+98_1032+99insAAAAGA...