Canonical Allele Identifier: CA2447976540

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 1042374
• ClinVar RCV Id: RCV001346311
• dbSNP Id: rs1928375319

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100406958_100406959delinsAA , CM000685.2:g.100406958_100406959delinsAA	GRCh38
NC_000023.10:g.99661956_99661957delinsAA , CM000685.1:g.99661956_99661957delinsAA	GRCh37
NC_000023.9:g.99548612_99548613delinsAA	NCBI36
NG_021319.1:g.8315_8316delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1639_1640delinsTT	ENSP00000255531.7:p.Ala547Phe
ENST00000373034.8:c.1639_1640delinsTT MANE Select	ENSP00000362125.4:p.Ala547Phe
ENST00000420881.6:c.1639_1640delinsTT	ENSP00000400327.2:p.Ala547Phe
NM_001105243.1:c.1639_1640delinsTT	NP_001098713.1:p.Ala547Phe
NM_001184880.1:c.1639_1640delinsTT	NP_001171809.1:p.Ala547Phe
NM_020766.2:c.1639_1640delinsTT	NP_065817.2:p.Ala547Phe
XM_011530997.1:c.1639_1640delinsTT	XP_011529299.1:p.Ala547Phe
XM_011530997.2:c.1639_1640delinsTT	XP_011529299.1:p.Ala547Phe
NM_001105243.2:c.1639_1640delinsTT	NP_001098713.1:p.Ala547Phe
NM_001184880.2:c.1639_1640delinsTT MANE Select	NP_001171809.1:p.Ala547Phe
NM_020766.3:c.1639_1640delinsTT	NP_065817.2:p.Ala547Phe