Canonical Allele Identifier: CA2695235317

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407253_100407255dup , CM000685.2:g.100407253_100407255dup	GRCh38
NC_000023.10:g.99662251_99662253dup , CM000685.1:g.99662251_99662253dup	GRCh37
NC_000023.9:g.99548907_99548909dup	NCBI36
NG_021319.1:g.8021_8023dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1345_1347dup	ENSP00000255531.7:p.Asn449_His450insAsn
ENST00000373034.8:c.1345_1347dup MANE Select	ENSP00000362125.4:p.Asn449_His450insAsn
ENST00000420881.6:c.1345_1347dup	ENSP00000400327.2:p.Asn449_His450insAsn
NM_001105243.1:c.1345_1347dup	NP_001098713.1:p.Asn449_His450insAsn
NM_001184880.1:c.1345_1347dup	NP_001171809.1:p.Asn449_His450insAsn
NM_020766.2:c.1345_1347dup	NP_065817.2:p.Asn449_His450insAsn
XM_011530997.1:c.1345_1347dup	XP_011529299.1:p.Asn449_His450insAsn
XM_011530997.2:c.1345_1347dup	XP_011529299.1:p.Asn449_His450insAsn
NM_001105243.2:c.1345_1347dup	NP_001098713.1:p.Asn449_His450insAsn
NM_001184880.2:c.1345_1347dup MANE Select	NP_001171809.1:p.Asn449_His450insAsn
NM_020766.3:c.1345_1347dup	NP_065817.2:p.Asn449_His450insAsn