Canonical Allele Identifier: CA891843591
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 565718
ClinVar RCV Id: RCV000685349

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100399186_100406943del , CM000685.2:g.100399186_100406943del GRCh38
NC_000023.10:g.99654184_99661941del , CM000685.1:g.99654184_99661941del GRCh37
NC_000023.9:g.99540840_99548597del NCBI36
NG_021319.1:g.8333_16090del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.1657_2475+3340del
ENST00000373034.8:c.1657_2616+3340del
ENST00000420881.6:c.1657_2475+3340del
NM_001105243.1:c.1657_2475+3340del
NM_001184880.1:c.1657_2616+3340del
NM_020766.2:c.1657_2475+3340del
XM_011530997.1:c.1657_2616+3340del
XM_011530997.2:c.1657_2616+3340del
NM_001105243.2:c.1657_2475+3340del
NM_001184880.2:c.1657_2616+3340del
NM_020766.3:c.1657_2475+3340del