Canonical Allele Identifier: CA2401804271
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs2094042699
gnomAD v4: 22-32104889-T-TA
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1770dup MANE Select ENSP00000266088.4:p.Glu591ArgfsTer6
ENST00000266088.8:c.1770dup ENSP00000266088.4:p.Glu591ArgfsTer6
ENST00000543737.2:c.1389dup ENSP00000444898.1:p.Glu464ArgfsTer6
NM_000343.3:c.1770dup NP_000334.1:p.Glu591ArgfsTer6
NM_001256314.1:c.1389dup NP_001243243.1:p.Glu464ArgfsTer6
XR_938173.1:n.591+1948dup
XR_938174.1:n.486+14965dup
NM_000343.4:c.1770dup MANE Select NP_000334.1:p.Glu591ArgfsTer6
NM_001256314.2:c.1389dup NP_001243243.1:p.Glu464ArgfsTer6
Search 100 bp 5'
Search 100 bp 3'