Canonical Allele Identifier: CA2694250721

Gene: PCDH19

Linked Data

• gnomAD v4: X-100342063-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342065del , CM000685.2:g.100342065del	GRCh38
NC_000023.10:g.99597063del , CM000685.1:g.99597063del	GRCh37
NC_000023.9:g.99483719del	NCBI36
NG_021319.1:g.73210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2546del	ENSP00000255531.7:p.Phe849SerfsTer4
ENST00000373034.8:c.2687del MANE Select	ENSP00000362125.4:p.Phe896SerfsTer4
ENST00000420881.6:c.2543del	ENSP00000400327.2:p.Phe848SerfsTer4
NM_001105243.1:c.2546del	NP_001098713.1:p.Phe849SerfsTer4
NM_001184880.1:c.2687del	NP_001171809.1:p.Phe896SerfsTer4
NM_020766.2:c.2543del	NP_065817.2:p.Phe848SerfsTer4
XM_011530997.1:c.2684del	XP_011529299.1:p.Phe895SerfsTer4
XM_011530997.2:c.2684del	XP_011529299.1:p.Phe895SerfsTer4
NM_001105243.2:c.2546del	NP_001098713.1:p.Phe849SerfsTer4
NM_001184880.2:c.2687del MANE Select	NP_001171809.1:p.Phe896SerfsTer4
NM_020766.3:c.2543del	NP_065817.2:p.Phe848SerfsTer4