Canonical Allele Identifier: CA2695234717

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 2737277
• ClinVar RCV Id: RCV003509063

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407462_100407465dup , CM000685.2:g.100407462_100407465dup	GRCh38
NC_000023.10:g.99662460_99662463dup , CM000685.1:g.99662460_99662463dup	GRCh37
NC_000023.9:g.99549116_99549119dup	NCBI36
NG_021319.1:g.7810_7813dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1134_1137dup	ENSP00000255531.7:p.Leu380ArgfsTer22
ENST00000373034.8:c.1134_1137dup MANE Select	ENSP00000362125.4:p.Leu380ArgfsTer22
ENST00000420881.6:c.1134_1137dup	ENSP00000400327.2:p.Leu380ArgfsTer22
NM_001105243.1:c.1134_1137dup	NP_001098713.1:p.Leu380ArgfsTer22
NM_001184880.1:c.1134_1137dup	NP_001171809.1:p.Leu380ArgfsTer22
NM_020766.2:c.1134_1137dup	NP_065817.2:p.Leu380ArgfsTer22
XM_011530997.1:c.1134_1137dup	XP_011529299.1:p.Leu380ArgfsTer22
XM_011530997.2:c.1134_1137dup	XP_011529299.1:p.Leu380ArgfsTer22
NM_001105243.2:c.1134_1137dup	NP_001098713.1:p.Leu380ArgfsTer22
NM_001184880.2:c.1134_1137dup MANE Select	NP_001171809.1:p.Leu380ArgfsTer22
NM_020766.3:c.1134_1137dup	NP_065817.2:p.Leu380ArgfsTer22