Canonical Allele Identifier: CA2546808143
Gene: PCDH15 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.55089087G>T , CM000672.2:g.55089087G>T GRCh38
NC_000010.10:g.56848847G>T , CM000672.1:g.56848847G>T GRCh37
NC_000010.9:g.56518853G>T NCBI36
NG_009191.3:g.545096C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000458638.1:c.-80+77489C>A ENSP00000394465.1:n.-80+77489C>A
ENST00000613346.4:c.-80+77489C>A ENSP00000481211.1:n.-80+77489C>A
NM_001354404.1:c.-80+77489C>A NP_001341333.1:n.-80+77489C>A
XM_017016573.2:c.-157+77489C>A XP_016872062.1:n.-157+77489C>A
NM_001354404.2:c.-80+77489C>A NP_001341333.1:n.-80+77489C>A
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