Canonical Allele Identifier: CA601869747
Gene: FXYD6-FXYD2 HGNC NCBI

Linked Data

dbSNP Id: rs1298677763
gnomAD v2: 11-117702755-TG-T
gnomAD v3: 11-117832040-TG-T
gnomAD v4: 11-117832040-TG-T
MyVariant Identifiers: chr11:g.117702756del (hg19) chr11:g.117832041del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117832041del , CM000673.2:g.117832041del GRCh38
NC_000011.9:g.117702756del , CM000673.1:g.117702756del GRCh37
NC_000011.8:g.117207966del NCBI36
NG_011543.1:g.1052del

Transcript Alleles

HGVS Amino-acid Change
ENST00000532984.1:c.272+7740del ENSP00000463024.1:n.272+7740del
ENST00000614497.5:c.259+7740del ENSP00000482442.1:n.259+7740del
NM_001204268.1:c.259+7740del NP_001191197.1:n.259+7740del
NM_001243598.2:c.272+7740del NP_001230527.1:n.272+7740del
NM_001204268.2:c.259+7740del NP_001191197.1:n.259+7740del
NM_001243598.3:c.272+7740del NP_001230527.1:n.272+7740del
NM_001204268.3:c.259+7740del NP_001191197.1:n.259+7740del
NM_001243598.4:c.272+7740del NP_001230527.1:n.272+7740del
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