Canonical Allele Identifier: CA2609218312

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806532-T-TGATTGACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806532_53806533insGATTGACAG , CM000672.2:g.53806532_53806533insGATTGACAG	GRCh38
NC_000010.10:g.55566292_55566293insGATTGACAG , CM000672.1:g.55566292_55566293insGATTGACAG	GRCh37
NC_000010.9:g.55236298_55236299insGATTGACAG	NCBI36
NG_009191.2:g.999759_999760insCTGTCAATC
NG_009191.3:g.1827650_1827651insCTGTCAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4128_4129insCTGTCAATC
ENST00000644397.2:c.*46_*47insCTGTCAATC MANE Select	ENSP00000495195.1:n.*46_*47insCTGTCAATC
ENST00000373965.6:c.*46_*47insCTGTCAATC	ENSP00000363076.3:n.*46_*47insCTGTCAATC
ENST00000414778.5:c.*46_*47insCTGTCAATC	ENSP00000410304.2:n.*46_*47insCTGTCAATC
ENST00000495484.5:c.*46_*47insCTGTCAATC	ENSP00000480780.1:n.*46_*47insCTGTCAATC
ENST00000614895.4:c.*46_*47insCTGTCAATC	ENSP00000478512.1:n.*46_*47insCTGTCAATC
ENST00000616114.4:c.*46_*47insCTGTCAATC	ENSP00000483745.1:n.*46_*47insCTGTCAATC
ENST00000618301.4:c.1429_1430insCTGTCAATC	ENSP00000482780.1:n.1429_1430insCTGTCAATC
ENST00000621708.4:c.*46_*47insCTGTCAATC	ENSP00000484454.1:n.*46_*47insCTGTCAATC
NM_001142771.1:c.*46_*47insCTGTCAATC	NP_001136243.1:n.*46_*47insCTGTCAATC
NM_001142772.1:c.*46_*47insCTGTCAATC	NP_001136244.1:n.*46_*47insCTGTCAATC
NM_001354420.1:c.*46_*47insCTGTCAATC	NP_001341349.1:n.*46_*47insCTGTCAATC
NM_001354429.1:c.*46_*47insCTGTCAATC	NP_001341358.1:n.*46_*47insCTGTCAATC
XR_001747192.2:n.11561_11562insCTGTCAATC
XR_001747193.2:n.11552_11553insCTGTCAATC
NM_001142771.2:c.*46_*47insCTGTCAATC	NP_001136243.1:n.*46_*47insCTGTCAATC
NM_001142772.2:c.*46_*47insCTGTCAATC	NP_001136244.1:n.*46_*47insCTGTCAATC
NM_001354420.2:c.*46_*47insCTGTCAATC	NP_001341349.1:n.*46_*47insCTGTCAATC
NM_001354429.2:c.*46_*47insCTGTCAATC	NP_001341358.1:n.*46_*47insCTGTCAATC
NM_001384140.1:c.*46_*47insCTGTCAATC MANE Select	NP_001371069.1:n.*46_*47insCTGTCAATC