Canonical Allele Identifier: CA672277921

Gene: FXYD6-FXYD2

Linked Data

• dbSNP Id: rs1408639639
• gnomAD v3: 11-117832089-ACCTAGAAAG-A
• gnomAD v4: 11-117832089-ACCTAGAAAG-A
• MyVariant Identifiers: chr11:g.117702805_117702813del (hg19) ; chr11:g.117832090_117832098del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117832092_117832100del , CM000673.2:g.117832092_117832100del	GRCh38
NC_000011.9:g.117702807_117702815del , CM000673.1:g.117702807_117702815del	GRCh37
NC_000011.8:g.117208017_117208025del	NCBI36
NG_011543.1:g.995_1003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532984.1:c.272+7683_272+7691del	ENSP00000463024.1:n.272+7683_272+7691del
ENST00000614497.5:c.259+7683_259+7691del	ENSP00000482442.1:n.259+7683_259+7691del
NM_001204268.1:c.259+7683_259+7691del	NP_001191197.1:n.259+7683_259+7691del
NM_001243598.2:c.272+7683_272+7691del	NP_001230527.1:n.272+7683_272+7691del
NM_001204268.2:c.259+7683_259+7691del	NP_001191197.1:n.259+7683_259+7691del
NM_001243598.3:c.272+7683_272+7691del	NP_001230527.1:n.272+7683_272+7691del
NM_001204268.3:c.259+7683_259+7691del	NP_001191197.1:n.259+7683_259+7691del
NM_001243598.4:c.272+7683_272+7691del	NP_001230527.1:n.272+7683_272+7691del