Canonical Allele Identifier: CA2508721647

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100341723_100341724insAA , CM000685.2:g.100341723_100341724insAA	GRCh38
NC_000023.10:g.99596721_99596722insAA , CM000685.1:g.99596721_99596722insAA	GRCh37
NC_000023.9:g.99483377_99483378insAA	NCBI36
NG_021319.1:g.73551_73552insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2707+180_2707+181insTT	ENSP00000255531.7:n.2707+180_2707+181insTT
ENST00000373034.8:c.2848+180_2848+181insTT MANE Select	ENSP00000362125.4:n.2848+180_2848+181insTT
ENST00000420881.6:c.2704+180_2704+181insTT	ENSP00000400327.2:n.2704+180_2704+181insTT
NM_001105243.1:c.2707+180_2707+181insTT	NP_001098713.1:n.2707+180_2707+181insTT
NM_001184880.1:c.2848+180_2848+181insTT	NP_001171809.1:n.2848+180_2848+181insTT
NM_020766.2:c.2704+180_2704+181insTT	NP_065817.2:n.2704+180_2704+181insTT
XM_011530997.1:c.2845+180_2845+181insTT	XP_011529299.1:n.2845+180_2845+181insTT
XM_011530997.2:c.2845+180_2845+181insTT	XP_011529299.1:n.2845+180_2845+181insTT
NM_001105243.2:c.2707+180_2707+181insTT	NP_001098713.1:n.2707+180_2707+181insTT
NM_001184880.2:c.2848+180_2848+181insTT MANE Select	NP_001171809.1:n.2848+180_2848+181insTT
NM_020766.3:c.2704+180_2704+181insTT	NP_065817.2:n.2704+180_2704+181insTT