Canonical Allele Identifier: CA2568818838
Gene: PCDH19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100341796_100341797del , CM000685.2:g.100341796_100341797del GRCh38
NC_000023.10:g.99596794_99596795del , CM000685.1:g.99596794_99596795del GRCh37
NC_000023.9:g.99483450_99483451del NCBI36
NG_021319.1:g.73477_73478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.2707+106_2707+107del ENSP00000255531.7:n.2707+106_2707+107del
ENST00000373034.8:c.2848+106_2848+107del MANE Select ENSP00000362125.4:n.2848+106_2848+107del
ENST00000420881.6:c.2704+106_2704+107del ENSP00000400327.2:n.2704+106_2704+107del
NM_001105243.1:c.2707+106_2707+107del NP_001098713.1:n.2707+106_2707+107del
NM_001184880.1:c.2848+106_2848+107del NP_001171809.1:n.2848+106_2848+107del
NM_020766.2:c.2704+106_2704+107del NP_065817.2:n.2704+106_2704+107del
XM_011530997.1:c.2845+106_2845+107del XP_011529299.1:n.2845+106_2845+107del
XM_011530997.2:c.2845+106_2845+107del XP_011529299.1:n.2845+106_2845+107del
NM_001105243.2:c.2707+106_2707+107del NP_001098713.1:n.2707+106_2707+107del
NM_001184880.2:c.2848+106_2848+107del MANE Select NP_001171809.1:n.2848+106_2848+107del
NM_020766.3:c.2704+106_2704+107del NP_065817.2:n.2704+106_2704+107del