Canonical Allele Identifier: CA2695235319

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407366_100407373del , CM000685.2:g.100407366_100407373del	GRCh38
NC_000023.10:g.99662364_99662371del , CM000685.1:g.99662364_99662371del	GRCh37
NC_000023.9:g.99549020_99549027del	NCBI36
NG_021319.1:g.7905_7912del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255531.8:c.1229_1236del	ENSP00000255531.7:p.Arg410ProfsTer?
ENST00000373034.8:c.1229_1236del MANE Select	ENSP00000362125.4:p.Arg410ProfsTer?
ENST00000420881.6:c.1229_1236del	ENSP00000400327.2:p.Arg410ProfsTer?
NM_001105243.1:c.1229_1236del	NP_001098713.1:p.Arg410ProfsTer?
NM_001184880.1:c.1229_1236del	NP_001171809.1:p.Arg410ProfsTer?
NM_020766.2:c.1229_1236del	NP_065817.2:p.Arg410ProfsTer?
XM_011530997.1:c.1229_1236del	XP_011529299.1:p.Arg410ProfsTer?
XM_011530997.2:c.1229_1236del	XP_011529299.1:p.Arg410ProfsTer?
NM_001105243.2:c.1229_1236del	NP_001098713.1:p.Arg410ProfsTer?
NM_001184880.2:c.1229_1236del MANE Select	NP_001171809.1:p.Arg410ProfsTer?
NM_020766.3:c.1229_1236del	NP_065817.2:p.Arg410ProfsTer?