Canonical Allele Identifier: CA928525826

Gene: PCDH15

Linked Data

• gnomAD v3: 10-53806151-C-CTGTAAATATCCTCTTACTTCT
• gnomAD v4: 10-53806151-C-CTGTAAATATCCTCTTACTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806153_53806173dup , CM000672.2:g.53806153_53806173dup	GRCh38
NC_000010.10:g.55565913_55565933dup , CM000672.1:g.55565913_55565933dup	GRCh37
NC_000010.9:g.55235919_55235939dup	NCBI36
NG_009191.2:g.1000120_1000140dup
NG_009191.3:g.1828011_1828031dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*407_*427dup MANE Select	ENSP00000495195.1:n.*407_*427dup
ENST00000373965.6:c.*407_*427dup	ENSP00000363076.3:n.*407_*427dup
ENST00000414778.5:c.*407_*427dup	ENSP00000410304.2:n.*407_*427dup
ENST00000614895.4:c.*407_*427dup	ENSP00000478512.1:n.*407_*427dup
NM_001142771.1:c.*407_*427dup	NP_001136243.1:n.*407_*427dup
NM_001142772.1:c.*407_*427dup	NP_001136244.1:n.*407_*427dup
NM_001354420.1:c.*407_*427dup	NP_001341349.1:n.*407_*427dup
NM_001354429.1:c.*407_*427dup	NP_001341358.1:n.*407_*427dup
XR_001747192.2:n.11922_11942dup
XR_001747193.2:n.11913_11933dup
NM_001142771.2:c.*407_*427dup	NP_001136243.1:n.*407_*427dup
NM_001142772.2:c.*407_*427dup	NP_001136244.1:n.*407_*427dup
NM_001354420.2:c.*407_*427dup	NP_001341349.1:n.*407_*427dup
NM_001354429.2:c.*407_*427dup	NP_001341358.1:n.*407_*427dup
NM_001384140.1:c.*407_*427dup MANE Select	NP_001371069.1:n.*407_*427dup