Canonical Allele Identifier: CA639080529

Gene: SLC5A1

Linked Data

• dbSNP Id: rs1286691251
• gnomAD v2: 22-32500835-AGAG-A
• gnomAD v4: 22-32104848-AGAG-A
• MyVariant Identifiers: chr22:g.32500836_32500838del (hg19) ; chr22:g.32104849_32104851del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104852_32104854del , CM000684.2:g.32104852_32104854del	GRCh38
NC_000022.10:g.32500839_32500841del , CM000684.1:g.32500839_32500841del	GRCh37
NC_000022.9:g.30830839_30830841del	NCBI36
NG_017045.1:g.66821_66823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1732_1734del MANE Select	ENSP00000266088.4:p.Glu578del
ENST00000266088.8:c.1732_1734del	ENSP00000266088.4:p.Glu578del
ENST00000543737.2:c.1351_1353del	ENSP00000444898.1:p.Glu451del
NM_000343.3:c.1732_1734del	NP_000334.1:p.Glu578del
NM_001256314.1:c.1351_1353del	NP_001243243.1:p.Glu451del
XR_938173.1:n.591+1987_591+1989del
XR_938174.1:n.486+15004_486+15006del
NM_000343.4:c.1732_1734del MANE Select	NP_000334.1:p.Glu578del
NM_001256314.2:c.1351_1353del	NP_001243243.1:p.Glu451del