Canonical Allele Identifier: CA2694250754
Gene: PCDH19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100342150_100342151del , CM000685.2:g.100342150_100342151del GRCh38
NC_000023.10:g.99597148_99597149del , CM000685.1:g.99597148_99597149del GRCh37
NC_000023.9:g.99483804_99483805del NCBI36
NG_021319.1:g.73124_73125del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.2535-75_2535-74del ENSP00000255531.7:n.2535-75_2535-74del
ENST00000373034.8:c.2676-75_2676-74del MANE Select ENSP00000362125.4:n.2676-75_2676-74del
ENST00000420881.6:c.2535-78_2535-77del ENSP00000400327.2:n.2535-78_2535-77del
NM_001105243.1:c.2535-75_2535-74del NP_001098713.1:n.2535-75_2535-74del
NM_001184880.1:c.2676-75_2676-74del NP_001171809.1:n.2676-75_2676-74del
NM_020766.2:c.2535-78_2535-77del NP_065817.2:n.2535-78_2535-77del
XM_011530997.1:c.2676-78_2676-77del XP_011529299.1:n.2676-78_2676-77del
XM_011530997.2:c.2676-78_2676-77del XP_011529299.1:n.2676-78_2676-77del
NM_001105243.2:c.2535-75_2535-74del NP_001098713.1:n.2535-75_2535-74del
NM_001184880.2:c.2676-75_2676-74del MANE Select NP_001171809.1:n.2676-75_2676-74del
NM_020766.3:c.2535-78_2535-77del NP_065817.2:n.2535-78_2535-77del