Canonical Allele Identifier: CA2573106141

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806604-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806606del , CM000672.2:g.53806606del	GRCh38
NC_000010.10:g.55566366del , CM000672.1:g.55566366del	GRCh37
NC_000010.9:g.55236372del	NCBI36
NG_009191.2:g.999687del
NG_009191.3:g.1827578del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.4056del
ENST00000644397.2:c.5197del MANE Select	ENSP00000495195.1:p.Leu1733SerfsTer5
ENST00000373965.6:c.5008del	ENSP00000363076.3:p.Leu1670SerfsTer5
ENST00000414778.5:c.5005del	ENSP00000410304.2:p.Leu1669SerfsTer5
ENST00000495484.5:c.1225del	ENSP00000480780.1:p.Leu409SerfsTer5
ENST00000614895.4:c.5020del	ENSP00000478512.1:p.Leu1674SerfsTer5
ENST00000616114.4:c.5002del	ENSP00000483745.1:p.Leu1668SerfsTer5
ENST00000618301.4:c.1357del	ENSP00000482780.1:p.Leu453SerfsTer5
ENST00000621708.4:c.5023del	ENSP00000484454.1:p.Leu1675SerfsTer5
NM_001142771.1:c.5023del	NP_001136243.1:p.Leu1675SerfsTer5
NM_001142772.1:c.5008del	NP_001136244.1:p.Leu1670SerfsTer5
NM_001354420.1:c.5002del	NP_001341349.1:p.Leu1668SerfsTer5
NM_001354429.1:c.5131del	NP_001341358.1:p.Leu1711SerfsTer5
XR_001747192.2:n.11489del
XR_001747193.2:n.11480del
NM_001142771.2:c.5023del	NP_001136243.1:p.Leu1675SerfsTer5
NM_001142772.2:c.5008del	NP_001136244.1:p.Leu1670SerfsTer5
NM_001354420.2:c.5002del	NP_001341349.1:p.Leu1668SerfsTer5
NM_001354429.2:c.5131del	NP_001341358.1:p.Leu1711SerfsTer5
NM_001384140.1:c.5197del MANE Select	NP_001371069.1:p.Leu1733SerfsTer5