Canonical Allele Identifier: CA1025134133
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs2094042569
gnomAD v3: 22-32104861-CAAG-C
gnomAD v4: 22-32104861-CAAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104865_32104867del , CM000684.2:g.32104865_32104867del GRCh38
NC_000022.10:g.32500852_32500854del , CM000684.1:g.32500852_32500854del GRCh37
NC_000022.9:g.30830852_30830854del NCBI36
NG_017045.1:g.66834_66836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1745_1747del MANE Select ENSP00000266088.4:p.Glu582del
ENST00000266088.8:c.1745_1747del ENSP00000266088.4:p.Glu582del
ENST00000543737.2:c.1364_1366del ENSP00000444898.1:p.Glu455del
NM_000343.3:c.1745_1747del NP_000334.1:p.Glu582del
NM_001256314.1:c.1364_1366del NP_001243243.1:p.Glu455del
XR_938173.1:n.591+1974_591+1976del
XR_938174.1:n.486+14991_486+14993del
NM_000343.4:c.1745_1747del MANE Select NP_000334.1:p.Glu582del
NM_001256314.2:c.1364_1366del NP_001243243.1:p.Glu455del
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