Canonical Allele Identifier: CA10198311
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs774993090
ExAC: 22:32500851 GAAGGCCCTAAGGAGACCATTGAA / G
gnomAD v2: 22-32500851-GAAGGCCCTAAGGAGACCATTGAA-G
gnomAD v4: 22-32104864-GAAGGCCCTAAGGAGACCATTGAA-G
MyVariant Identifiers: chr22:g.32500852_32500874del (hg19) chr22:g.32104865_32104887del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104866_32104888del , CM000684.2:g.32104866_32104888del GRCh38
NC_000022.10:g.32500853_32500875del , CM000684.1:g.32500853_32500875del GRCh37
NC_000022.9:g.30830853_30830875del NCBI36
NG_017045.1:g.66835_66857del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1746_1768del MANE Select ENSP00000266088.4:p.Glu582AspfsTer7
ENST00000266088.8:c.1746_1768del ENSP00000266088.4:p.Glu582AspfsTer7
ENST00000543737.2:c.1365_1387del ENSP00000444898.1:p.Glu455AspfsTer7
NM_000343.3:c.1746_1768del NP_000334.1:p.Glu582AspfsTer7
NM_001256314.1:c.1365_1387del NP_001243243.1:p.Glu455AspfsTer7
XR_938173.1:n.591+1951_591+1973del
XR_938174.1:n.486+14968_486+14990del
NM_000343.4:c.1746_1768del MANE Select NP_000334.1:p.Glu582AspfsTer7
NM_001256314.2:c.1365_1387del NP_001243243.1:p.Glu455AspfsTer7
Search 100 bp 5'
Search 100 bp 3'