Canonical Allele Identifier: CA2580100061

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 2113384
• ClinVar RCV Id: RCV003038748

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100406541_100407019delinsGCAGAGA , CM000685.2:g.100406541_100407019delinsGCAGAGA	GRCh38
NC_000023.10:g.99661539_99662017delinsGCAGAGA , CM000685.1:g.99661539_99662017delinsGCAGAGA	GRCh37
NC_000023.9:g.99548195_99548673delinsGCAGAGA	NCBI36
NG_021319.1:g.8255_8733delinsTCTCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1579_2057delinsTCTCTGC	ENSP00000255531.7:p.Lys527SerfsTer11
ENST00000373034.8:c.1579_2057delinsTCTCTGC MANE Select	ENSP00000362125.4:p.Lys527SerfsTer11
ENST00000420881.6:c.1579_2057delinsTCTCTGC	ENSP00000400327.2:p.Lys527SerfsTer11
NM_001105243.1:c.1579_2057delinsTCTCTGC	NP_001098713.1:p.Lys527SerfsTer11
NM_001184880.1:c.1579_2057delinsTCTCTGC	NP_001171809.1:p.Lys527SerfsTer11
NM_020766.2:c.1579_2057delinsTCTCTGC	NP_065817.2:p.Lys527SerfsTer11
XM_011530997.1:c.1579_2057delinsTCTCTGC	XP_011529299.1:p.Lys527SerfsTer11
XM_011530997.2:c.1579_2057delinsTCTCTGC	XP_011529299.1:p.Lys527SerfsTer11
NM_001105243.2:c.1579_2057delinsTCTCTGC	NP_001098713.1:p.Lys527SerfsTer11
NM_001184880.2:c.1579_2057delinsTCTCTGC MANE Select	NP_001171809.1:p.Lys527SerfsTer11
NM_020766.3:c.1579_2057delinsTCTCTGC	NP_065817.2:p.Lys527SerfsTer11