Canonical Allele Identifier: CA639080555

Gene: SLC5A1

Linked Data

• dbSNP Id: rs1158822703
• gnomAD v2: 22-32500876-TA-T
• gnomAD v4: 22-32104889-TA-T
• MyVariant Identifiers: chr22:g.32500877del (hg19) ; chr22:g.32104890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104890del , CM000684.2:g.32104890del	GRCh38
NC_000022.10:g.32500877del , CM000684.1:g.32500877del	GRCh37
NC_000022.9:g.30830877del	NCBI36
NG_017045.1:g.66859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1770del MANE Select	ENSP00000266088.4:p.Ile590MetfsTer23
ENST00000266088.8:c.1770del	ENSP00000266088.4:p.Ile590MetfsTer23
ENST00000543737.2:c.1389del	ENSP00000444898.1:p.Ile463MetfsTer23
NM_000343.3:c.1770del	NP_000334.1:p.Ile590MetfsTer23
NM_001256314.1:c.1389del	NP_001243243.1:p.Ile463MetfsTer23
XR_938173.1:n.591+1948del
XR_938174.1:n.486+14965del
NM_000343.4:c.1770del MANE Select	NP_000334.1:p.Ile590MetfsTer23
NM_001256314.2:c.1389del	NP_001243243.1:p.Ile463MetfsTer23