Canonical Allele Identifier: CA593495466

Gene: PCDH15

Linked Data

• dbSNP Id: rs1479427008
• gnomAD v2: 10-55565959-AAAATT-A
• gnomAD v3: 10-53806199-AAAATT-A
• gnomAD v4: 10-53806199-AAAATT-A
• MyVariant Identifiers: chr10:g.55565960_55565964del (hg19) ; chr10:g.53806200_53806204del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806201_53806205del , CM000672.2:g.53806201_53806205del	GRCh38
NC_000010.10:g.55565961_55565965del , CM000672.1:g.55565961_55565965del	GRCh37
NC_000010.9:g.55235967_55235971del	NCBI36
NG_009191.2:g.1000088_1000092del
NG_009191.3:g.1827979_1827983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*375_*379del MANE Select	ENSP00000495195.1:n.*375_*379del
ENST00000373965.6:c.*375_*379del	ENSP00000363076.3:n.*375_*379del
ENST00000414778.5:c.*375_*379del	ENSP00000410304.2:n.*375_*379del
ENST00000614895.4:c.*375_*379del	ENSP00000478512.1:n.*375_*379del
ENST00000616114.4:c.*375_*379del	ENSP00000483745.1:n.*375_*379del
NM_001142771.1:c.*375_*379del	NP_001136243.1:n.*375_*379del
NM_001142772.1:c.*375_*379del	NP_001136244.1:n.*375_*379del
NM_001354420.1:c.*375_*379del	NP_001341349.1:n.*375_*379del
NM_001354429.1:c.*375_*379del	NP_001341358.1:n.*375_*379del
XR_001747192.2:n.11890_11894del
XR_001747193.2:n.11881_11885del
NM_001142771.2:c.*375_*379del	NP_001136243.1:n.*375_*379del
NM_001142772.2:c.*375_*379del	NP_001136244.1:n.*375_*379del
NM_001354420.2:c.*375_*379del	NP_001341349.1:n.*375_*379del
NM_001354429.2:c.*375_*379del	NP_001341358.1:n.*375_*379del
NM_001384140.1:c.*375_*379del MANE Select	NP_001371069.1:n.*375_*379del