Canonical Allele Identifier: CA2609218133

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806262-TAAAATATAAATGATTATTTAGTAATTATTTCTTGTTTATTAAAATGAACAAAAATTCAAGACCCAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806267_53806333del , CM000672.2:g.53806267_53806333del	GRCh38
NC_000010.10:g.55566027_55566093del , CM000672.1:g.55566027_55566093del	GRCh37
NC_000010.9:g.55236033_55236099del	NCBI36
NG_009191.2:g.999963_1000029del
NG_009191.3:g.1827854_1827920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*250_*316del MANE Select	ENSP00000495195.1:n.*250_*316del
ENST00000373965.6:c.*250_*316del	ENSP00000363076.3:n.*250_*316del
ENST00000414778.5:c.*250_*316del	ENSP00000410304.2:n.*250_*316del
ENST00000614895.4:c.*250_*316del	ENSP00000478512.1:n.*250_*316del
ENST00000616114.4:c.*250_*316del	ENSP00000483745.1:n.*250_*316del
NM_001142771.1:c.*250_*316del	NP_001136243.1:n.*250_*316del
NM_001142772.1:c.*250_*316del	NP_001136244.1:n.*250_*316del
NM_001354420.1:c.*250_*316del	NP_001341349.1:n.*250_*316del
NM_001354429.1:c.*250_*316del	NP_001341358.1:n.*250_*316del
XR_001747192.2:n.11765_11831del
XR_001747193.2:n.11756_11822del
NM_001142771.2:c.*250_*316del	NP_001136243.1:n.*250_*316del
NM_001142772.2:c.*250_*316del	NP_001136244.1:n.*250_*316del
NM_001354420.2:c.*250_*316del	NP_001341349.1:n.*250_*316del
NM_001354429.2:c.*250_*316del	NP_001341358.1:n.*250_*316del
NM_001384140.1:c.*250_*316del MANE Select	NP_001371069.1:n.*250_*316del