Canonical Allele Identifier: CA2518684028

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100341984del , CM000685.2:g.100341984del	GRCh38
NC_000023.10:g.99596982del , CM000685.1:g.99596982del	GRCh37
NC_000023.9:g.99483638del	NCBI36
NG_021319.1:g.73290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2626del	ENSP00000255531.7:p.Arg876GlyfsTer13
ENST00000373034.8:c.2767del MANE Select	ENSP00000362125.4:p.Arg923GlyfsTer13
ENST00000420881.6:c.2623del	ENSP00000400327.2:p.Arg875GlyfsTer13
NM_001105243.1:c.2626del	NP_001098713.1:p.Arg876GlyfsTer13
NM_001184880.1:c.2767del	NP_001171809.1:p.Arg923GlyfsTer13
NM_020766.2:c.2623del	NP_065817.2:p.Arg875GlyfsTer13
XM_011530997.1:c.2764del	XP_011529299.1:p.Arg922GlyfsTer13
XM_011530997.2:c.2764del	XP_011529299.1:p.Arg922GlyfsTer13
NM_001105243.2:c.2626del	NP_001098713.1:p.Arg876GlyfsTer13
NM_001184880.2:c.2767del MANE Select	NP_001171809.1:p.Arg923GlyfsTer13
NM_020766.3:c.2623del	NP_065817.2:p.Arg875GlyfsTer13