Canonical Allele Identifier: CA1910754878
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs1841147535

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806251_53806253dup , CM000672.2:g.53806251_53806253dup GRCh38
NC_000010.10:g.55566011_55566013dup , CM000672.1:g.55566011_55566013dup GRCh37
NC_000010.9:g.55236017_55236019dup NCBI36
NG_009191.2:g.1000039_1000041dup
NG_009191.3:g.1827930_1827932dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644397.2:c.*326_*328dup MANE Select ENSP00000495195.1:n.*326_*328dup
ENST00000373965.6:c.*326_*328dup ENSP00000363076.3:n.*326_*328dup
ENST00000414778.5:c.*326_*328dup ENSP00000410304.2:n.*326_*328dup
ENST00000614895.4:c.*326_*328dup ENSP00000478512.1:n.*326_*328dup
ENST00000616114.4:c.*326_*328dup ENSP00000483745.1:n.*326_*328dup
NM_001142771.1:c.*326_*328dup NP_001136243.1:n.*326_*328dup
NM_001142772.1:c.*326_*328dup NP_001136244.1:n.*326_*328dup
NM_001354420.1:c.*326_*328dup NP_001341349.1:n.*326_*328dup
NM_001354429.1:c.*326_*328dup NP_001341358.1:n.*326_*328dup
XR_001747192.2:n.11841_11843dup
XR_001747193.2:n.11832_11834dup
NM_001142771.2:c.*326_*328dup NP_001136243.1:n.*326_*328dup
NM_001142772.2:c.*326_*328dup NP_001136244.1:n.*326_*328dup
NM_001354420.2:c.*326_*328dup NP_001341349.1:n.*326_*328dup
NM_001354429.2:c.*326_*328dup NP_001341358.1:n.*326_*328dup
NM_001384140.1:c.*326_*328dup MANE Select NP_001371069.1:n.*326_*328dup