Canonical Allele Identifier: CA2447976590

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407114_100407119delinsGACGGC , CM000685.2:g.100407114_100407119delinsGACGGC	GRCh38
NC_000023.10:g.99662112_99662117delinsGACGGC , CM000685.1:g.99662112_99662117delinsGACGGC	GRCh37
NC_000023.9:g.99548768_99548773delinsGACGGC	NCBI36
NG_021319.1:g.8155_8160delinsGCCGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1479_1484delinsGCCGTC	ENSP00000255531.7:p.Val493=
ENST00000373034.8:c.1479_1484delinsGCCGTC MANE Select	ENSP00000362125.4:p.Val493=
ENST00000420881.6:c.1479_1484delinsGCCGTC	ENSP00000400327.2:p.Val493=
NM_001105243.1:c.1479_1484delinsGCCGTC	NP_001098713.1:p.Val493=
NM_001184880.1:c.1479_1484delinsGCCGTC	NP_001171809.1:p.Val493=
NM_020766.2:c.1479_1484delinsGCCGTC	NP_065817.2:p.Val493=
XM_011530997.1:c.1479_1484delinsGCCGTC	XP_011529299.1:p.Val493=
XM_011530997.2:c.1479_1484delinsGCCGTC	XP_011529299.1:p.Val493=
NM_001105243.2:c.1479_1484delinsGCCGTC	NP_001098713.1:p.Val493=
NM_001184880.2:c.1479_1484delinsGCCGTC MANE Select	NP_001171809.1:p.Val493=
NM_020766.3:c.1479_1484delinsGCCGTC	NP_065817.2:p.Val493=