Canonical Allele Identifier: CA653311192
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53809409_53809410insCA , CM000672.2:g.53809409_53809410insCA GRCh38
NC_000010.10:g.55569169_55569170insCA , CM000672.1:g.55569169_55569170insCA GRCh37
NC_000010.9:g.55239175_55239176insCA NCBI36
NG_009191.2:g.996882_996883insTG
NG_009191.3:g.1824773_1824774insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4655_4656insTG ENSP00000482794.1:p.Met1553AlafsTer2
ENST00000395445.6:c.4634_4635insTG ENSP00000378832.2:p.Met1546AlafsTer2
ENST00000613657.5:c.4655_4656insTG ENSP00000482794.1:p.Met1553AlafsTer2
ENST00000642496.1:c.3530+1146_3530+1147insTG
ENST00000644397.2:c.4671+1146_4671+1147insTG MANE Select ENSP00000495195.1:n.4671+1146_4671+1147insTG
ENST00000373965.6:c.4482+1146_4482+1147insTG ENSP00000363076.3:n.4482+1146_4482+1147insTG
ENST00000395438.5:c.*70_*71insTG ENSP00000378826.2:n.*70_*71insTG
ENST00000395440.5:c.1442_1443insTG ENSP00000378827.1:p.Met482AlafsTer2
ENST00000395442.5:c.1235_1236insTG ENSP00000378829.1:p.Met413AlafsTer2
ENST00000395445.5:c.4634_4635insTG ENSP00000378832.2:p.Met1546AlafsTer2
ENST00000395446.5:c.2228_2229insTG ENSP00000378833.1:p.Met744AlafsTer2
ENST00000409834.5:c.*70_*71insTG ENSP00000386693.1:n.*70_*71insTG
ENST00000414367.5:c.*693_*694insTG ENSP00000412531.1:n.*693_*694insTG
ENST00000414778.5:c.4479+1146_4479+1147insTG ENSP00000410304.2:n.4479+1146_4479+1147insTG
ENST00000476074.5:n.609+1146_609+1147insTG
ENST00000495484.5:c.699+1146_699+1147insTG ENSP00000480780.1:n.699+1146_699+1147insTG
ENST00000612394.4:c.4652_4653insTG ENSP00000482921.1:p.Met1552AlafsTer2
ENST00000613657.4:c.4655_4656insTG ENSP00000482794.1:p.Met1553AlafsTer2
ENST00000614895.4:c.4494+1146_4494+1147insTG ENSP00000478512.1:n.4494+1146_4494+1147insTG
ENST00000615043.1:c.255_256insTG
ENST00000616114.4:c.4476+1146_4476+1147insTG ENSP00000483745.1:n.4476+1146_4476+1147insTG
ENST00000617271.4:c.*70_*71insTG ENSP00000478076.1:n.*70_*71insTG
ENST00000618301.4:c.831+1146_831+1147insTG ENSP00000482780.1:n.831+1146_831+1147insTG
ENST00000621708.4:c.4497+1146_4497+1147insTG ENSP00000484454.1:n.4497+1146_4497+1147insTG
NM_001142769.1:c.4655_4656insTG NP_001136241.1:p.Met1553AlafsTer2
NM_001142770.1:c.*70_*71insTG NP_001136242.1:n.*70_*71insTG
NM_001142771.1:c.4497+1146_4497+1147insTG NP_001136243.1:n.4497+1146_4497+1147insTG
NM_001142772.1:c.4482+1146_4482+1147insTG NP_001136244.1:n.4482+1146_4482+1147insTG
NM_001142769.2:c.4655_4656insTG NP_001136241.1:p.Met1553AlafsTer2
NM_001142770.2:c.*70_*71insTG NP_001136242.1:n.*70_*71insTG
NM_001354411.1:c.4634_4635insTG NP_001341340.1:p.Met1546AlafsTer2
NM_001354420.1:c.4476+1146_4476+1147insTG NP_001341349.1:n.4476+1146_4476+1147insTG
NM_001354429.1:c.4605+1146_4605+1147insTG NP_001341358.1:n.4605+1146_4605+1147insTG
XM_017016573.2:c.4634_4635insTG XP_016872062.1:p.Met1546AlafsTer2
XR_001747192.2:n.10963+1146_10963+1147insTG
XR_001747193.2:n.10954+1146_10954+1147insTG
NM_001142769.3:c.4655_4656insTG NP_001136241.1:p.Met1553AlafsTer2
NM_001142770.3:c.*70_*71insTG NP_001136242.1:n.*70_*71insTG
NM_001142771.2:c.4497+1146_4497+1147insTG NP_001136243.1:n.4497+1146_4497+1147insTG
NM_001142772.2:c.4482+1146_4482+1147insTG NP_001136244.1:n.4482+1146_4482+1147insTG
NM_001354411.2:c.4634_4635insTG NP_001341340.1:p.Met1546AlafsTer2
NM_001354420.2:c.4476+1146_4476+1147insTG NP_001341349.1:n.4476+1146_4476+1147insTG
NM_001354429.2:c.4605+1146_4605+1147insTG NP_001341358.1:n.4605+1146_4605+1147insTG
NM_001384140.1:c.4671+1146_4671+1147insTG MANE Select NP_001371069.1:n.4671+1146_4671+1147insTG