Canonical Allele Identifier: CA2609218335

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806593-T-TTGGTATA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806597_53806603dup , CM000672.2:g.53806597_53806603dup	GRCh38
NC_000010.10:g.55566357_55566363dup , CM000672.1:g.55566357_55566363dup	GRCh37
NC_000010.9:g.55236363_55236369dup	NCBI36
NG_009191.2:g.999692_999698dup
NG_009191.3:g.1827583_1827589dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.4061_4067dup
ENST00000644397.2:c.5202_5208dup MANE Select	ENSP00000495195.1:p.Met1737TyrfsTer23
ENST00000373965.6:c.5013_5019dup	ENSP00000363076.3:p.Met1674TyrfsTer23
ENST00000414778.5:c.5010_5016dup	ENSP00000410304.2:p.Met1673TyrfsTer23
ENST00000495484.5:c.1230_1236dup	ENSP00000480780.1:p.Met413TyrfsTer23
ENST00000614895.4:c.5025_5031dup	ENSP00000478512.1:p.Met1678TyrfsTer23
ENST00000616114.4:c.5007_5013dup	ENSP00000483745.1:p.Met1672TyrfsTer23
ENST00000618301.4:c.1362_1368dup	ENSP00000482780.1:p.Met457TyrfsTer23
ENST00000621708.4:c.5028_5034dup	ENSP00000484454.1:p.Met1679TyrfsTer23
NM_001142771.1:c.5028_5034dup	NP_001136243.1:p.Met1679TyrfsTer23
NM_001142772.1:c.5013_5019dup	NP_001136244.1:p.Met1674TyrfsTer23
NM_001354420.1:c.5007_5013dup	NP_001341349.1:p.Met1672TyrfsTer23
NM_001354429.1:c.5136_5142dup	NP_001341358.1:p.Met1715TyrfsTer23
XR_001747192.2:n.11494_11500dup
XR_001747193.2:n.11485_11491dup
NM_001142771.2:c.5028_5034dup	NP_001136243.1:p.Met1679TyrfsTer23
NM_001142772.2:c.5013_5019dup	NP_001136244.1:p.Met1674TyrfsTer23
NM_001354420.2:c.5007_5013dup	NP_001341349.1:p.Met1672TyrfsTer23
NM_001354429.2:c.5136_5142dup	NP_001341358.1:p.Met1715TyrfsTer23
NM_001384140.1:c.5202_5208dup MANE Select	NP_001371069.1:p.Met1737TyrfsTer23