Canonical Allele Identifier: CA2695234735

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100408075_100408082del , CM000685.2:g.100408075_100408082del	GRCh38
NC_000023.10:g.99663073_99663080del , CM000685.1:g.99663073_99663080del	GRCh37
NC_000023.9:g.99549729_99549736del	NCBI36
NG_021319.1:g.7194_7201del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255531.8:c.518_525del	ENSP00000255531.7:p.Leu173ProfsTer?
ENST00000373034.8:c.518_525del MANE Select	ENSP00000362125.4:p.Leu173ProfsTer?
ENST00000420881.6:c.518_525del	ENSP00000400327.2:p.Leu173ProfsTer?
NM_001105243.1:c.518_525del	NP_001098713.1:p.Leu173ProfsTer?
NM_001184880.1:c.518_525del	NP_001171809.1:p.Leu173ProfsTer?
NM_020766.2:c.518_525del	NP_065817.2:p.Leu173ProfsTer?
XM_011530997.1:c.518_525del	XP_011529299.1:p.Leu173ProfsTer?
XM_011530997.2:c.518_525del	XP_011529299.1:p.Leu173ProfsTer?
NM_001105243.2:c.518_525del	NP_001098713.1:p.Leu173ProfsTer?
NM_001184880.2:c.518_525del MANE Select	NP_001171809.1:p.Leu173ProfsTer?
NM_020766.3:c.518_525del	NP_065817.2:p.Leu173ProfsTer?