Canonical Allele Identifier: CA1910755113

Gene: PCDH15

Linked Data

• dbSNP Id: rs1841155465
• gnomAD v3: 10-53806366-G-GAA
• gnomAD v4: 10-53806366-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806368_53806369dup , CM000672.2:g.53806368_53806369dup	GRCh38
NC_000010.10:g.55566128_55566129dup , CM000672.1:g.55566128_55566129dup	GRCh37
NC_000010.9:g.55236134_55236135dup	NCBI36
NG_009191.2:g.999924_999925dup
NG_009191.3:g.1827815_1827816dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4293_4294dup
ENST00000644397.2:c.*211_*212dup MANE Select	ENSP00000495195.1:n.*211_*212dup
ENST00000373965.6:c.*211_*212dup	ENSP00000363076.3:n.*211_*212dup
ENST00000414778.5:c.*211_*212dup	ENSP00000410304.2:n.*211_*212dup
ENST00000495484.5:c.*211_*212dup	ENSP00000480780.1:n.*211_*212dup
ENST00000614895.4:c.*211_*212dup	ENSP00000478512.1:n.*211_*212dup
ENST00000616114.4:c.*211_*212dup	ENSP00000483745.1:n.*211_*212dup
ENST00000621708.4:c.*211_*212dup	ENSP00000484454.1:n.*211_*212dup
NM_001142771.1:c.*211_*212dup	NP_001136243.1:n.*211_*212dup
NM_001142772.1:c.*211_*212dup	NP_001136244.1:n.*211_*212dup
NM_001354420.1:c.*211_*212dup	NP_001341349.1:n.*211_*212dup
NM_001354429.1:c.*211_*212dup	NP_001341358.1:n.*211_*212dup
XR_001747192.2:n.11726_11727dup
XR_001747193.2:n.11717_11718dup
NM_001142771.2:c.*211_*212dup	NP_001136243.1:n.*211_*212dup
NM_001142772.2:c.*211_*212dup	NP_001136244.1:n.*211_*212dup
NM_001354420.2:c.*211_*212dup	NP_001341349.1:n.*211_*212dup
NM_001354429.2:c.*211_*212dup	NP_001341358.1:n.*211_*212dup
NM_001384140.1:c.*211_*212dup MANE Select	NP_001371069.1:n.*211_*212dup