Canonical Allele Identifier: CA2694246050

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 2816530
• ClinVar RCV Id: RCV003622678
• gnomAD v4: X-100407765-TAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407768_100407770del , CM000685.2:g.100407768_100407770del	GRCh38
NC_000023.10:g.99662766_99662768del , CM000685.1:g.99662766_99662768del	GRCh37
NC_000023.9:g.99549422_99549424del	NCBI36
NG_021319.1:g.7506_7508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.830_832del	ENSP00000255531.7:p.Phe277del
ENST00000373034.8:c.830_832del MANE Select	ENSP00000362125.4:p.Phe277del
ENST00000420881.6:c.830_832del	ENSP00000400327.2:p.Phe277del
NM_001105243.1:c.830_832del	NP_001098713.1:p.Phe277del
NM_001184880.1:c.830_832del	NP_001171809.1:p.Phe277del
NM_020766.2:c.830_832del	NP_065817.2:p.Phe277del
XM_011530997.1:c.830_832del	XP_011529299.1:p.Phe277del
XM_011530997.2:c.830_832del	XP_011529299.1:p.Phe277del
NM_001105243.2:c.830_832del	NP_001098713.1:p.Phe277del
NM_001184880.2:c.830_832del MANE Select	NP_001171809.1:p.Phe277del
NM_020766.3:c.830_832del	NP_065817.2:p.Phe277del