Canonical Allele Identifier: CA2531949185

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100341725_100341726insT , CM000685.2:g.100341725_100341726insT	GRCh38
NC_000023.10:g.99596723_99596724insT , CM000685.1:g.99596723_99596724insT	GRCh37
NC_000023.9:g.99483379_99483380insT	NCBI36
NG_021319.1:g.73548_73549insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2707+177_2707+178insA	ENSP00000255531.7:n.2707+177_2707+178insA
ENST00000373034.8:c.2848+177_2848+178insA MANE Select	ENSP00000362125.4:n.2848+177_2848+178insA
ENST00000420881.6:c.2704+177_2704+178insA	ENSP00000400327.2:n.2704+177_2704+178insA
NM_001105243.1:c.2707+177_2707+178insA	NP_001098713.1:n.2707+177_2707+178insA
NM_001184880.1:c.2848+177_2848+178insA	NP_001171809.1:n.2848+177_2848+178insA
NM_020766.2:c.2704+177_2704+178insA	NP_065817.2:n.2704+177_2704+178insA
XM_011530997.1:c.2845+177_2845+178insA	XP_011529299.1:n.2845+177_2845+178insA
XM_011530997.2:c.2845+177_2845+178insA	XP_011529299.1:n.2845+177_2845+178insA
NM_001105243.2:c.2707+177_2707+178insA	NP_001098713.1:n.2707+177_2707+178insA
NM_001184880.2:c.2848+177_2848+178insA MANE Select	NP_001171809.1:n.2848+177_2848+178insA
NM_020766.3:c.2704+177_2704+178insA	NP_065817.2:n.2704+177_2704+178insA