Canonical Allele Identifier: CA593495520

Gene: PCDH15

Linked Data

• dbSNP Id: rs1460595144
• gnomAD v2: 10-55566045-A-AATT
• gnomAD v3: 10-53806285-A-AATT
• gnomAD v4: 10-53806285-A-AATT
• MyVariant Identifiers: chr10:g.55566045_55566046insATT (hg19) ; chr10:g.53806285_53806286insATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806289_53806291dup , CM000672.2:g.53806289_53806291dup	GRCh38
NC_000010.10:g.55566049_55566051dup , CM000672.1:g.55566049_55566051dup	GRCh37
NC_000010.9:g.55236055_55236057dup	NCBI36
NG_009191.2:g.1000004_1000006dup
NG_009191.3:g.1827895_1827897dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*291_*293dup MANE Select	ENSP00000495195.1:n.*291_*293dup
ENST00000373965.6:c.*291_*293dup	ENSP00000363076.3:n.*291_*293dup
ENST00000414778.5:c.*291_*293dup	ENSP00000410304.2:n.*291_*293dup
ENST00000614895.4:c.*291_*293dup	ENSP00000478512.1:n.*291_*293dup
ENST00000616114.4:c.*291_*293dup	ENSP00000483745.1:n.*291_*293dup
NM_001142771.1:c.*291_*293dup	NP_001136243.1:n.*291_*293dup
NM_001142772.1:c.*291_*293dup	NP_001136244.1:n.*291_*293dup
NM_001354420.1:c.*291_*293dup	NP_001341349.1:n.*291_*293dup
NM_001354429.1:c.*291_*293dup	NP_001341358.1:n.*291_*293dup
XR_001747192.2:n.11806_11808dup
XR_001747193.2:n.11797_11799dup
NM_001142771.2:c.*291_*293dup	NP_001136243.1:n.*291_*293dup
NM_001142772.2:c.*291_*293dup	NP_001136244.1:n.*291_*293dup
NM_001354420.2:c.*291_*293dup	NP_001341349.1:n.*291_*293dup
NM_001354429.2:c.*291_*293dup	NP_001341358.1:n.*291_*293dup
NM_001384140.1:c.*291_*293dup MANE Select	NP_001371069.1:n.*291_*293dup