Canonical Allele Identifier: CA912970253
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806634_53806637del , CM000672.2:g.53806634_53806637del GRCh38
NC_000010.10:g.55566394_55566397del , CM000672.1:g.55566394_55566397del GRCh37
NC_000010.9:g.55236400_55236403del NCBI36
NG_009191.2:g.999656_999659del
NG_009191.3:g.1827547_1827550del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4025_4028del
ENST00000644397.2:c.5166_5169del MANE Select ENSP00000495195.1:p.Asp1722GlufsTer15
ENST00000373965.6:c.4977_4980del ENSP00000363076.3:p.Asp1659GlufsTer15
ENST00000414778.5:c.4974_4977del ENSP00000410304.2:p.Asp1658GlufsTer15
ENST00000495484.5:c.1194_1197del ENSP00000480780.1:p.Asp398GlufsTer15
ENST00000614895.4:c.4989_4992del ENSP00000478512.1:p.Asp1663GlufsTer15
ENST00000616114.4:c.4971_4974del ENSP00000483745.1:p.Asp1657GlufsTer15
ENST00000618301.4:c.1326_1329del ENSP00000482780.1:p.Asp442GlufsTer15
ENST00000621708.4:c.4992_4995del ENSP00000484454.1:p.Asp1664GlufsTer15
NM_001142771.1:c.4992_4995del NP_001136243.1:p.Asp1664GlufsTer15
NM_001142772.1:c.4977_4980del NP_001136244.1:p.Asp1659GlufsTer15
NM_001354420.1:c.4971_4974del NP_001341349.1:p.Asp1657GlufsTer15
NM_001354429.1:c.5100_5103del NP_001341358.1:p.Asp1700GlufsTer15
XR_001747192.2:n.11458_11461del
XR_001747193.2:n.11449_11452del
NM_001142771.2:c.4992_4995del NP_001136243.1:p.Asp1664GlufsTer15
NM_001142772.2:c.4977_4980del NP_001136244.1:p.Asp1659GlufsTer15
NM_001354420.2:c.4971_4974del NP_001341349.1:p.Asp1657GlufsTer15
NM_001354429.2:c.5100_5103del NP_001341358.1:p.Asp1700GlufsTer15
NM_001384140.1:c.5166_5169del MANE Select NP_001371069.1:p.Asp1722GlufsTer15