Canonical Allele Identifier: CA2561108540
Gene: SLC17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25787785del , CM000668.2:g.25787785del GRCh38
NC_000006.11:g.25788013del , CM000668.1:g.25788013del GRCh37
NC_000006.10:g.25895992del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244527.10:c.*3-4567del MANE Select ENSP00000244527.4:n.*3-4567del
ENST00000244527.8:c.*3-4567del ENSP00000244527.4:n.*3-4567del
ENST00000377886.6:c.*658-4567del ENSP00000367118.2:n.*658-4567del
NM_005074.3:c.*3-4567del NP_005065.2:n.*3-4567del
XM_011514818.1:c.1179-4567del XP_011513120.1:n.1179-4567del
XM_011514818.2:c.1329-4567del XP_011513120.2:n.1329-4567del
XM_017011200.1:c.*3-4567del XP_016866689.1:n.*3-4567del
XM_017011201.2:c.*2+10998del XP_016866690.1:n.*2+10998del
NM_005074.5:c.*3-4567del MANE Select NP_005065.2:n.*3-4567del
Search 100 bp 5'
Search 100 bp 3'