Canonical Allele Identifier: CA2447976848

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407756_100407757delinsAC , CM000685.2:g.100407756_100407757delinsAC	GRCh38
NC_000023.10:g.99662754_99662755delinsAC , CM000685.1:g.99662754_99662755delinsAC	GRCh37
NC_000023.9:g.99549410_99549411delinsAC	NCBI36
NG_021319.1:g.7517_7518delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.841_842delinsGT	ENSP00000255531.7:p.Val281=
ENST00000373034.8:c.841_842delinsGT MANE Select	ENSP00000362125.4:p.Val281=
ENST00000420881.6:c.841_842delinsGT	ENSP00000400327.2:p.Val281=
NM_001105243.1:c.841_842delinsGT	NP_001098713.1:p.Val281=
NM_001184880.1:c.841_842delinsGT	NP_001171809.1:p.Val281=
NM_020766.2:c.841_842delinsGT	NP_065817.2:p.Val281=
XM_011530997.1:c.841_842delinsGT	XP_011529299.1:p.Val281=
XM_011530997.2:c.841_842delinsGT	XP_011529299.1:p.Val281=
NM_001105243.2:c.841_842delinsGT	NP_001098713.1:p.Val281=
NM_001184880.2:c.841_842delinsGT MANE Select	NP_001171809.1:p.Val281=
NM_020766.3:c.841_842delinsGT	NP_065817.2:p.Val281=