Canonical Allele Identifier: CA2656282600
Gene: SLC5A1 HGNC NCBI

Linked Data

gnomAD v4: 22-32043376-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32043377del , CM000684.2:g.32043377del GRCh38
NC_000022.10:g.32439364del , CM000684.1:g.32439364del GRCh37
NC_000022.9:g.30769364del NCBI36
NG_017045.1:g.5346del

Transcript Alleles

HGVS Amino-acid change
ENST00000266088.9:c.96del MANE Select ENSP00000266088.4:p.Ile32MetfsTer7
ENST00000266088.8:c.96del ENSP00000266088.4:p.Ile32MetfsTer7
NM_000343.3:c.96del NP_000334.1:p.Ile32MetfsTer7
XM_011530331.1:c.96del XP_011528633.1:p.Ile32MetfsTer7
NM_000343.4:c.96del MANE Select NP_000334.1:p.Ile32MetfsTer7
Search 100 bp 5'
Search 100 bp 3'