Canonical Allele Identifier: CA2609218972

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53809375-T-TATCA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809376_53809379dup , CM000672.2:g.53809376_53809379dup	GRCh38
NC_000010.10:g.55569136_55569139dup , CM000672.1:g.55569136_55569139dup	GRCh37
NC_000010.9:g.55239142_55239145dup	NCBI36
NG_009191.2:g.996913_996916dup
NG_009191.3:g.1824804_1824807dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4686_4689dup	ENSP00000482794.1:p.Lys1564Ter
ENST00000395445.6:c.4665_4668dup	ENSP00000378832.2:p.Lys1557Ter
ENST00000613657.5:c.4686_4689dup	ENSP00000482794.1:p.Lys1564Ter
ENST00000642496.1:c.3530+1177_3530+1180dup
ENST00000644397.2:c.4671+1177_4671+1180dup MANE Select	ENSP00000495195.1:n.4671+1177_4671+1180dup
ENST00000373965.6:c.4482+1177_4482+1180dup	ENSP00000363076.3:n.4482+1177_4482+1180dup
ENST00000395438.5:c.*101_*104dup	ENSP00000378826.2:n.*101_*104dup
ENST00000395440.5:c.1473_1476dup	ENSP00000378827.1:p.Lys493Ter
ENST00000395442.5:c.1266_1269dup	ENSP00000378829.1:p.Lys424Ter
ENST00000395445.5:c.4665_4668dup	ENSP00000378832.2:p.Lys1557Ter
ENST00000395446.5:c.2259_2262dup	ENSP00000378833.1:p.Lys755Ter
ENST00000409834.5:c.*101_*104dup	ENSP00000386693.1:n.*101_*104dup
ENST00000414367.5:c.*724_*727dup	ENSP00000412531.1:n.*724_*727dup
ENST00000414778.5:c.4479+1177_4479+1180dup	ENSP00000410304.2:n.4479+1177_4479+1180dup
ENST00000476074.5:n.609+1177_609+1180dup
ENST00000495484.5:c.699+1177_699+1180dup	ENSP00000480780.1:n.699+1177_699+1180dup
ENST00000612394.4:c.4683_4686dup	ENSP00000482921.1:p.Lys1563Ter
ENST00000613657.4:c.4686_4689dup	ENSP00000482794.1:p.Lys1564Ter
ENST00000614895.4:c.4494+1177_4494+1180dup	ENSP00000478512.1:n.4494+1177_4494+1180dup
ENST00000615043.1:c.286_289dup
ENST00000616114.4:c.4476+1177_4476+1180dup	ENSP00000483745.1:n.4476+1177_4476+1180dup
ENST00000617271.4:c.*101_*104dup	ENSP00000478076.1:n.*101_*104dup
ENST00000618301.4:c.831+1177_831+1180dup	ENSP00000482780.1:n.831+1177_831+1180dup
ENST00000621708.4:c.4497+1177_4497+1180dup	ENSP00000484454.1:n.4497+1177_4497+1180dup
NM_001142769.1:c.4686_4689dup	NP_001136241.1:p.Lys1564Ter
NM_001142770.1:c.*101_*104dup	NP_001136242.1:n.*101_*104dup
NM_001142771.1:c.4497+1177_4497+1180dup	NP_001136243.1:n.4497+1177_4497+1180dup
NM_001142772.1:c.4482+1177_4482+1180dup	NP_001136244.1:n.4482+1177_4482+1180dup
NM_001142769.2:c.4686_4689dup	NP_001136241.1:p.Lys1564Ter
NM_001142770.2:c.*101_*104dup	NP_001136242.1:n.*101_*104dup
NM_001354411.1:c.4665_4668dup	NP_001341340.1:p.Lys1557Ter
NM_001354420.1:c.4476+1177_4476+1180dup	NP_001341349.1:n.4476+1177_4476+1180dup
NM_001354429.1:c.4605+1177_4605+1180dup	NP_001341358.1:n.4605+1177_4605+1180dup
XM_017016573.2:c.4665_4668dup	XP_016872062.1:p.Lys1557Ter
XR_001747192.2:n.10963+1177_10963+1180dup
XR_001747193.2:n.10954+1177_10954+1180dup
NM_001142769.3:c.4686_4689dup	NP_001136241.1:p.Lys1564Ter
NM_001142770.3:c.*101_*104dup	NP_001136242.1:n.*101_*104dup
NM_001142771.2:c.4497+1177_4497+1180dup	NP_001136243.1:n.4497+1177_4497+1180dup
NM_001142772.2:c.4482+1177_4482+1180dup	NP_001136244.1:n.4482+1177_4482+1180dup
NM_001354411.2:c.4665_4668dup	NP_001341340.1:p.Lys1557Ter
NM_001354420.2:c.4476+1177_4476+1180dup	NP_001341349.1:n.4476+1177_4476+1180dup
NM_001354429.2:c.4605+1177_4605+1180dup	NP_001341358.1:n.4605+1177_4605+1180dup
NM_001384140.1:c.4671+1177_4671+1180dup MANE Select	NP_001371069.1:n.4671+1177_4671+1180dup