Canonical Allele Identifier: CA2609218886

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53809101-G-GACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809102_53809105dup , CM000672.2:g.53809102_53809105dup	GRCh38
NC_000010.10:g.55568862_55568865dup , CM000672.1:g.55568862_55568865dup	GRCh37
NC_000010.9:g.55238868_55238871dup	NCBI36
NG_009191.2:g.997187_997190dup
NG_009191.3:g.1825078_1825081dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4960_4963dup	ENSP00000482794.1:p.Ser1655Ter
ENST00000395445.6:c.4939_4942dup	ENSP00000378832.2:p.Ser1648Ter
ENST00000613657.5:c.4960_4963dup	ENSP00000482794.1:p.Ser1655Ter
ENST00000642496.1:c.3530+1451_3530+1454dup
ENST00000644397.2:c.4671+1451_4671+1454dup MANE Select	ENSP00000495195.1:n.4671+1451_4671+1454dup
ENST00000373965.6:c.4482+1451_4482+1454dup	ENSP00000363076.3:n.4482+1451_4482+1454dup
ENST00000395438.5:c.*375_*378dup	ENSP00000378826.2:n.*375_*378dup
ENST00000395440.5:c.1747_1750dup	ENSP00000378827.1:p.Ser584Ter
ENST00000395442.5:c.1540_1543dup	ENSP00000378829.1:p.Ser515Ter
ENST00000395445.5:c.4939_4942dup	ENSP00000378832.2:p.Ser1648Ter
ENST00000395446.5:c.2533_2536dup	ENSP00000378833.1:p.Ser846Ter
ENST00000409834.5:c.*375_*378dup	ENSP00000386693.1:n.*375_*378dup
ENST00000414367.5:c.*998_*1001dup	ENSP00000412531.1:n.*998_*1001dup
ENST00000414778.5:c.4479+1451_4479+1454dup	ENSP00000410304.2:n.4479+1451_4479+1454dup
ENST00000476074.5:n.609+1451_609+1454dup
ENST00000495484.5:c.699+1451_699+1454dup	ENSP00000480780.1:n.699+1451_699+1454dup
ENST00000612394.4:c.4957_4960dup	ENSP00000482921.1:p.Ser1654Ter
ENST00000613657.4:c.4960_4963dup	ENSP00000482794.1:p.Ser1655Ter
ENST00000614895.4:c.4494+1451_4494+1454dup	ENSP00000478512.1:n.4494+1451_4494+1454dup
ENST00000615043.1:c.560_563dup
ENST00000616114.4:c.4476+1451_4476+1454dup	ENSP00000483745.1:n.4476+1451_4476+1454dup
ENST00000617271.4:c.*375_*378dup	ENSP00000478076.1:n.*375_*378dup
ENST00000618301.4:c.831+1451_831+1454dup	ENSP00000482780.1:n.831+1451_831+1454dup
ENST00000621708.4:c.4497+1451_4497+1454dup	ENSP00000484454.1:n.4497+1451_4497+1454dup
NM_001142769.1:c.4960_4963dup	NP_001136241.1:p.Ser1655Ter
NM_001142770.1:c.*375_*378dup	NP_001136242.1:n.*375_*378dup
NM_001142771.1:c.4497+1451_4497+1454dup	NP_001136243.1:n.4497+1451_4497+1454dup
NM_001142772.1:c.4482+1451_4482+1454dup	NP_001136244.1:n.4482+1451_4482+1454dup
NM_001142769.2:c.4960_4963dup	NP_001136241.1:p.Ser1655Ter
NM_001142770.2:c.*375_*378dup	NP_001136242.1:n.*375_*378dup
NM_001354411.1:c.4939_4942dup	NP_001341340.1:p.Ser1648Ter
NM_001354420.1:c.4476+1451_4476+1454dup	NP_001341349.1:n.4476+1451_4476+1454dup
NM_001354429.1:c.4605+1451_4605+1454dup	NP_001341358.1:n.4605+1451_4605+1454dup
XM_017016573.2:c.4939_4942dup	XP_016872062.1:p.Ser1648Ter
XR_001747192.2:n.10963+1451_10963+1454dup
XR_001747193.2:n.10954+1451_10954+1454dup
NM_001142769.3:c.4960_4963dup	NP_001136241.1:p.Ser1655Ter
NM_001142770.3:c.*375_*378dup	NP_001136242.1:n.*375_*378dup
NM_001142771.2:c.4497+1451_4497+1454dup	NP_001136243.1:n.4497+1451_4497+1454dup
NM_001142772.2:c.4482+1451_4482+1454dup	NP_001136244.1:n.4482+1451_4482+1454dup
NM_001354411.2:c.4939_4942dup	NP_001341340.1:p.Ser1648Ter
NM_001354420.2:c.4476+1451_4476+1454dup	NP_001341349.1:n.4476+1451_4476+1454dup
NM_001354429.2:c.4605+1451_4605+1454dup	NP_001341358.1:n.4605+1451_4605+1454dup
NM_001384140.1:c.4671+1451_4671+1454dup MANE Select	NP_001371069.1:n.4671+1451_4671+1454dup