Canonical Allele Identifier: CA666450240

Gene: PCDH15

Linked Data

• dbSNP Id: rs1381788047
• gnomAD v4: 10-53806274-G-GATT
• MyVariant Identifiers: chr10:g.55566034_55566035insATT (hg19) ; chr10:g.53806274_53806275insATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806278_53806280dup , CM000672.2:g.53806278_53806280dup	GRCh38
NC_000010.10:g.55566038_55566040dup , CM000672.1:g.55566038_55566040dup	GRCh37
NC_000010.9:g.55236044_55236046dup	NCBI36
NG_009191.2:g.1000015_1000017dup
NG_009191.3:g.1827906_1827908dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*302_*304dup MANE Select	ENSP00000495195.1:n.*302_*304dup
ENST00000373965.6:c.*302_*304dup	ENSP00000363076.3:n.*302_*304dup
ENST00000414778.5:c.*302_*304dup	ENSP00000410304.2:n.*302_*304dup
ENST00000614895.4:c.*302_*304dup	ENSP00000478512.1:n.*302_*304dup
ENST00000616114.4:c.*302_*304dup	ENSP00000483745.1:n.*302_*304dup
NM_001142771.1:c.*302_*304dup	NP_001136243.1:n.*302_*304dup
NM_001142772.1:c.*302_*304dup	NP_001136244.1:n.*302_*304dup
NM_001354420.1:c.*302_*304dup	NP_001341349.1:n.*302_*304dup
NM_001354429.1:c.*302_*304dup	NP_001341358.1:n.*302_*304dup
XR_001747192.2:n.11817_11819dup
XR_001747193.2:n.11808_11810dup
NM_001142771.2:c.*302_*304dup	NP_001136243.1:n.*302_*304dup
NM_001142772.2:c.*302_*304dup	NP_001136244.1:n.*302_*304dup
NM_001354420.2:c.*302_*304dup	NP_001341349.1:n.*302_*304dup
NM_001354429.2:c.*302_*304dup	NP_001341358.1:n.*302_*304dup
NM_001384140.1:c.*302_*304dup MANE Select	NP_001371069.1:n.*302_*304dup