Canonical Allele Identifier: CA1910755049

Gene: PCDH15

Linked Data

• dbSNP Id: rs1841153517

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806343_53806346dup , CM000672.2:g.53806343_53806346dup	GRCh38
NC_000010.10:g.55566103_55566106dup , CM000672.1:g.55566103_55566106dup	GRCh37
NC_000010.9:g.55236109_55236112dup	NCBI36
NG_009191.2:g.999947_999950dup
NG_009191.3:g.1827838_1827841dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4316_4319dup
ENST00000644397.2:c.*234_*237dup MANE Select	ENSP00000495195.1:n.*234_*237dup
ENST00000373965.6:c.*234_*237dup	ENSP00000363076.3:n.*234_*237dup
ENST00000414778.5:c.*234_*237dup	ENSP00000410304.2:n.*234_*237dup
ENST00000495484.5:c.*234_*237dup	ENSP00000480780.1:n.*234_*237dup
ENST00000614895.4:c.*234_*237dup	ENSP00000478512.1:n.*234_*237dup
ENST00000616114.4:c.*234_*237dup	ENSP00000483745.1:n.*234_*237dup
ENST00000621708.4:c.*234_*237dup	ENSP00000484454.1:n.*234_*237dup
NM_001142771.1:c.*234_*237dup	NP_001136243.1:n.*234_*237dup
NM_001142772.1:c.*234_*237dup	NP_001136244.1:n.*234_*237dup
NM_001354420.1:c.*234_*237dup	NP_001341349.1:n.*234_*237dup
NM_001354429.1:c.*234_*237dup	NP_001341358.1:n.*234_*237dup
XR_001747192.2:n.11749_11752dup
XR_001747193.2:n.11740_11743dup
NM_001142771.2:c.*234_*237dup	NP_001136243.1:n.*234_*237dup
NM_001142772.2:c.*234_*237dup	NP_001136244.1:n.*234_*237dup
NM_001354420.2:c.*234_*237dup	NP_001341349.1:n.*234_*237dup
NM_001354429.2:c.*234_*237dup	NP_001341358.1:n.*234_*237dup
NM_001384140.1:c.*234_*237dup MANE Select	NP_001371069.1:n.*234_*237dup