Canonical Allele Identifier: CA1087040470
Gene: SLC17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1763408758
gnomAD v3: 6-25787460-TAA-T
gnomAD v4: 6-25787460-TAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25787462_25787463del , CM000668.2:g.25787462_25787463del GRCh38
NC_000006.11:g.25787690_25787691del , CM000668.1:g.25787690_25787691del GRCh37
NC_000006.10:g.25895669_25895670del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000244527.10:c.*3-4244_*3-4243del MANE Select ENSP00000244527.4:n.*3-4244_*3-4243del
ENST00000244527.8:c.*3-4244_*3-4243del ENSP00000244527.4:n.*3-4244_*3-4243del
ENST00000377886.6:c.*658-4244_*658-4243del ENSP00000367118.2:n.*658-4244_*658-4243del
NM_005074.3:c.*3-4244_*3-4243del NP_005065.2:n.*3-4244_*3-4243del
XM_011514818.1:c.1179-4244_1179-4243del XP_011513120.1:n.1179-4244_1179-4243del
XM_011514818.2:c.1329-4244_1329-4243del XP_011513120.2:n.1329-4244_1329-4243del
XM_017011200.1:c.*3-4244_*3-4243del XP_016866689.1:n.*3-4244_*3-4243del
XM_017011201.2:c.*2+11321_*2+11322del XP_016866690.1:n.*2+11321_*2+11322del
NM_005074.5:c.*3-4244_*3-4243del MANE Select NP_005065.2:n.*3-4244_*3-4243del
Search 100 bp 5'
Search 100 bp 3'