Canonical Allele Identifier: CA666450251

Gene: PCDH15

Linked Data

• dbSNP Id: rs1345959331
• gnomAD v3: 10-53806279-TTTAG-T
• gnomAD v4: 10-53806279-TTTAG-T
• MyVariant Identifiers: chr10:g.55566040_55566043del (hg19) ; chr10:g.53806280_53806283del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806281_53806284del , CM000672.2:g.53806281_53806284del	GRCh38
NC_000010.10:g.55566041_55566044del , CM000672.1:g.55566041_55566044del	GRCh37
NC_000010.9:g.55236047_55236050del	NCBI36
NG_009191.2:g.1000009_1000012del
NG_009191.3:g.1827900_1827903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*296_*299del MANE Select	ENSP00000495195.1:n.*296_*299del
ENST00000373965.6:c.*296_*299del	ENSP00000363076.3:n.*296_*299del
ENST00000414778.5:c.*296_*299del	ENSP00000410304.2:n.*296_*299del
ENST00000614895.4:c.*296_*299del	ENSP00000478512.1:n.*296_*299del
ENST00000616114.4:c.*296_*299del	ENSP00000483745.1:n.*296_*299del
NM_001142771.1:c.*296_*299del	NP_001136243.1:n.*296_*299del
NM_001142772.1:c.*296_*299del	NP_001136244.1:n.*296_*299del
NM_001354420.1:c.*296_*299del	NP_001341349.1:n.*296_*299del
NM_001354429.1:c.*296_*299del	NP_001341358.1:n.*296_*299del
XR_001747192.2:n.11811_11814del
XR_001747193.2:n.11802_11805del
NM_001142771.2:c.*296_*299del	NP_001136243.1:n.*296_*299del
NM_001142772.2:c.*296_*299del	NP_001136244.1:n.*296_*299del
NM_001354420.2:c.*296_*299del	NP_001341349.1:n.*296_*299del
NM_001354429.2:c.*296_*299del	NP_001341358.1:n.*296_*299del
NM_001384140.1:c.*296_*299del MANE Select	NP_001371069.1:n.*296_*299del