Canonical Allele Identifier: CA2447955620

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100341751_100341752delinsAG , CM000685.2:g.100341751_100341752delinsAG	GRCh38
NC_000023.10:g.99596749_99596750delinsAG , CM000685.1:g.99596749_99596750delinsAG	GRCh37
NC_000023.9:g.99483405_99483406delinsAG	NCBI36
NG_021319.1:g.73522_73523delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2707+151_2707+152delinsCT	ENSP00000255531.7:n.2707+151_2707+152delinsCT
ENST00000373034.8:c.2848+151_2848+152delinsCT MANE Select	ENSP00000362125.4:n.2848+151_2848+152delinsCT
ENST00000420881.6:c.2704+151_2704+152delinsCT	ENSP00000400327.2:n.2704+151_2704+152delinsCT
NM_001105243.1:c.2707+151_2707+152delinsCT	NP_001098713.1:n.2707+151_2707+152delinsCT
NM_001184880.1:c.2848+151_2848+152delinsCT	NP_001171809.1:n.2848+151_2848+152delinsCT
NM_020766.2:c.2704+151_2704+152delinsCT	NP_065817.2:n.2704+151_2704+152delinsCT
XM_011530997.1:c.2845+151_2845+152delinsCT	XP_011529299.1:n.2845+151_2845+152delinsCT
XM_011530997.2:c.2845+151_2845+152delinsCT	XP_011529299.1:n.2845+151_2845+152delinsCT
NM_001105243.2:c.2707+151_2707+152delinsCT	NP_001098713.1:n.2707+151_2707+152delinsCT
NM_001184880.2:c.2848+151_2848+152delinsCT MANE Select	NP_001171809.1:n.2848+151_2848+152delinsCT
NM_020766.3:c.2704+151_2704+152delinsCT	NP_065817.2:n.2704+151_2704+152delinsCT