Canonical Allele Identifier: CA2506469814

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100341727_100341728del , CM000685.2:g.100341727_100341728del	GRCh38
NC_000023.10:g.99596725_99596726del , CM000685.1:g.99596725_99596726del	GRCh37
NC_000023.9:g.99483381_99483382del	NCBI36
NG_021319.1:g.73546_73547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2707+175_2707+176del	ENSP00000255531.7:n.2707+175_2707+176del
ENST00000373034.8:c.2848+175_2848+176del MANE Select	ENSP00000362125.4:n.2848+175_2848+176del
ENST00000420881.6:c.2704+175_2704+176del	ENSP00000400327.2:n.2704+175_2704+176del
NM_001105243.1:c.2707+175_2707+176del	NP_001098713.1:n.2707+175_2707+176del
NM_001184880.1:c.2848+175_2848+176del	NP_001171809.1:n.2848+175_2848+176del
NM_020766.2:c.2704+175_2704+176del	NP_065817.2:n.2704+175_2704+176del
XM_011530997.1:c.2845+175_2845+176del	XP_011529299.1:n.2845+175_2845+176del
XM_011530997.2:c.2845+175_2845+176del	XP_011529299.1:n.2845+175_2845+176del
NM_001105243.2:c.2707+175_2707+176del	NP_001098713.1:n.2707+175_2707+176del
NM_001184880.2:c.2848+175_2848+176del MANE Select	NP_001171809.1:n.2848+175_2848+176del
NM_020766.3:c.2704+175_2704+176del	NP_065817.2:n.2704+175_2704+176del