Canonical Allele Identifier: CA593631018
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs933220211
gnomAD v2: 10-56661365-A-AT
gnomAD v3: 10-54901605-A-AT
gnomAD v4: 10-54901605-A-AT
MyVariant Identifiers: chr10:g.56661366_56661367insT (hg19) chr10:g.56661365_56661366insT (hg19) chr10:g.54901606_54901607insT (hg38) chr10:g.54901605_54901606insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.54901612dup , CM000672.2:g.54901612dup GRCh38
NC_000010.10:g.56661372dup , CM000672.1:g.56661372dup GRCh37
NC_000010.9:g.56331378dup NCBI36
NG_009191.3:g.732577dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000458638.1:c.-79-4106dup ENSP00000394465.1:n.-79-4106dup
ENST00000613346.4:c.-79-4106dup ENSP00000481211.1:n.-79-4106dup
NM_001354404.1:c.-79-4106dup NP_001341333.1:n.-79-4106dup
XM_017016573.2:c.-79-4106dup XP_016872062.1:n.-79-4106dup
NM_001354404.2:c.-79-4106dup NP_001341333.1:n.-79-4106dup
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