Canonical Allele Identifier: CA752477616
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1359566462
MyVariant Identifiers: chr22:g.32500800del (hg19) chr22:g.32104813del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104814del , CM000684.2:g.32104814del GRCh38
NC_000022.10:g.32500801del , CM000684.1:g.32500801del GRCh37
NC_000022.9:g.30830801del NCBI36
NG_017045.1:g.66783del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1694del MANE Select ENSP00000266088.4:p.Asn565ThrfsTer26
ENST00000266088.8:c.1694del ENSP00000266088.4:p.Asn565ThrfsTer26
ENST00000543737.2:c.1313del ENSP00000444898.1:p.Asn438ThrfsTer26
NM_000343.3:c.1694del NP_000334.1:p.Asn565ThrfsTer26
NM_001256314.1:c.1313del NP_001243243.1:p.Asn438ThrfsTer26
XR_938173.1:n.591+2025del
XR_938174.1:n.486+15042del
NM_000343.4:c.1694del MANE Select NP_000334.1:p.Asn565ThrfsTer26
NM_001256314.2:c.1313del NP_001243243.1:p.Asn438ThrfsTer26
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