Canonical Allele Identifier: CA2695235319
Gene: PCDH19 HGNC NCBI

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?