Canonical Allele Identifier: CA593495518

Gene: PCDH15

Linked Data

• dbSNP Id: rs1422759562
• gnomAD v2: 10-55566043-G-GTAAT
• gnomAD v3: 10-53806283-G-GTAAT
• gnomAD v4: 10-53806283-G-GTAAT
• MyVariant Identifiers: chr10:g.55566043_55566044insTAAT (hg19) ; chr10:g.53806283_53806284insTAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806286_53806289dup , CM000672.2:g.53806286_53806289dup	GRCh38
NC_000010.10:g.55566046_55566049dup , CM000672.1:g.55566046_55566049dup	GRCh37
NC_000010.9:g.55236052_55236055dup	NCBI36
NG_009191.2:g.1000005_1000008dup
NG_009191.3:g.1827896_1827899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*292_*295dup MANE Select	ENSP00000495195.1:n.*292_*295dup
ENST00000373965.6:c.*292_*295dup	ENSP00000363076.3:n.*292_*295dup
ENST00000414778.5:c.*292_*295dup	ENSP00000410304.2:n.*292_*295dup
ENST00000614895.4:c.*292_*295dup	ENSP00000478512.1:n.*292_*295dup
ENST00000616114.4:c.*292_*295dup	ENSP00000483745.1:n.*292_*295dup
NM_001142771.1:c.*292_*295dup	NP_001136243.1:n.*292_*295dup
NM_001142772.1:c.*292_*295dup	NP_001136244.1:n.*292_*295dup
NM_001354420.1:c.*292_*295dup	NP_001341349.1:n.*292_*295dup
NM_001354429.1:c.*292_*295dup	NP_001341358.1:n.*292_*295dup
XR_001747192.2:n.11807_11810dup
XR_001747193.2:n.11798_11801dup
NM_001142771.2:c.*292_*295dup	NP_001136243.1:n.*292_*295dup
NM_001142772.2:c.*292_*295dup	NP_001136244.1:n.*292_*295dup
NM_001354420.2:c.*292_*295dup	NP_001341349.1:n.*292_*295dup
NM_001354429.2:c.*292_*295dup	NP_001341358.1:n.*292_*295dup
NM_001384140.1:c.*292_*295dup MANE Select	NP_001371069.1:n.*292_*295dup