Canonical Allele Identifier: CA2574549911

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806707_53806709del , CM000672.2:g.53806707_53806709del	GRCh38
NC_000010.10:g.55566467_55566469del , CM000672.1:g.55566467_55566469del	GRCh37
NC_000010.9:g.55236473_55236475del	NCBI36
NG_009191.2:g.999585_999587del
NG_009191.3:g.1827476_1827478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3954_3956del
ENST00000644397.2:c.5095_5097del MANE Select	ENSP00000495195.1:p.Glu1699del
ENST00000373965.6:c.4906_4908del	ENSP00000363076.3:p.Glu1636del
ENST00000414778.5:c.4903_4905del	ENSP00000410304.2:p.Glu1635del
ENST00000495484.5:c.1123_1125del	ENSP00000480780.1:p.Glu375del
ENST00000614895.4:c.4918_4920del	ENSP00000478512.1:p.Glu1640del
ENST00000616114.4:c.4900_4902del	ENSP00000483745.1:p.Glu1634del
ENST00000618301.4:c.1255_1257del	ENSP00000482780.1:p.Glu419del
ENST00000621708.4:c.4921_4923del	ENSP00000484454.1:p.Glu1641del
NM_001142771.1:c.4921_4923del	NP_001136243.1:p.Glu1641del
NM_001142772.1:c.4906_4908del	NP_001136244.1:p.Glu1636del
NM_001354420.1:c.4900_4902del	NP_001341349.1:p.Glu1634del
NM_001354429.1:c.5029_5031del	NP_001341358.1:p.Glu1677del
XR_001747192.2:n.11387_11389del
XR_001747193.2:n.11378_11380del
NM_001142771.2:c.4921_4923del	NP_001136243.1:p.Glu1641del
NM_001142772.2:c.4906_4908del	NP_001136244.1:p.Glu1636del
NM_001354420.2:c.4900_4902del	NP_001341349.1:p.Glu1634del
NM_001354429.2:c.5029_5031del	NP_001341358.1:p.Glu1677del
NM_001384140.1:c.5095_5097del MANE Select	NP_001371069.1:p.Glu1699del