Canonical Allele Identifier: CA10643146
Gene: GNS HGNC NCBI

Linked Data

ClinVar Variation Id: 310172
ClinVar RCV Id: RCV000283057
dbSNP Id: rs201933913
gnomAD v2: 12-65107909-C-CA
gnomAD v3: 12-64714129-C-CA
gnomAD v4: 12-64714129-C-CA
MyVariant Identifiers: chr12:g.65107910dupA (hg19) chr12:g.65107909_65107910insA (hg19) chr12:g.64714130dupA (hg38) chr12:g.64714129_64714130insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64714138dup , CM000674.2:g.64714138dup GRCh38
NC_000012.11:g.65107918dup , CM000674.1:g.65107918dup GRCh37
NC_000012.10:g.63394185dup NCBI36
NG_008955.1:g.50317dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000258145.8:c.*2611dup MANE Select ENSP00000258145.3:n.*2611dup
ENST00000258145.7:c.*2611dup ENSP00000258145.3:n.*2611dup
ENST00000418919.6:c.*2611dup ENSP00000413130.2:n.*2611dup
NM_002076.3:c.*2611dup NP_002067.1:n.*2611dup
NM_002076.4:c.*2611dup MANE Select NP_002067.1:n.*2611dup
Search 100 bp 5'
Search 100 bp 3'