Canonical Allele Identifier: CA2522849274

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407353_100407354insCTT , CM000685.2:g.100407353_100407354insCTT	GRCh38
NC_000023.10:g.99662351_99662352insCTT , CM000685.1:g.99662351_99662352insCTT	GRCh37
NC_000023.9:g.99549007_99549008insCTT	NCBI36
NG_021319.1:g.7920_7921insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1244_1245insAAG	ENSP00000255531.7:p.Gln415_His416insArg
ENST00000373034.8:c.1244_1245insAAG MANE Select	ENSP00000362125.4:p.Gln415_His416insArg
ENST00000420881.6:c.1244_1245insAAG	ENSP00000400327.2:p.Gln415_His416insArg
NM_001105243.1:c.1244_1245insAAG	NP_001098713.1:p.Gln415_His416insArg
NM_001184880.1:c.1244_1245insAAG	NP_001171809.1:p.Gln415_His416insArg
NM_020766.2:c.1244_1245insAAG	NP_065817.2:p.Gln415_His416insArg
XM_011530997.1:c.1244_1245insAAG	XP_011529299.1:p.Gln415_His416insArg
XM_011530997.2:c.1244_1245insAAG	XP_011529299.1:p.Gln415_His416insArg
NM_001105243.2:c.1244_1245insAAG	NP_001098713.1:p.Gln415_His416insArg
NM_001184880.2:c.1244_1245insAAG MANE Select	NP_001171809.1:p.Gln415_His416insArg
NM_020766.3:c.1244_1245insAAG	NP_065817.2:p.Gln415_His416insArg