Canonical Allele Identifier: CA16621145
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 420905
ClinVar RCV Id: RCV000484556
dbSNP Id: rs1064794781

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100342071_100342079del , CM000685.2:g.100342071_100342079del GRCh38
NC_000023.10:g.99597069_99597077del , CM000685.1:g.99597069_99597077del GRCh37
NC_000023.9:g.99483725_99483733del NCBI36
NG_021319.1:g.73198_73206del

Transcript Alleles

HGVS Amino-acid change
ENST00000255531.8:c.2535-1_2542del
ENST00000373034.8:c.2676-1_2683del
ENST00000420881.6:c.2535-4_2539del
NM_001105243.1:c.2535-1_2542del
NM_001184880.1:c.2676-1_2683del
NM_020766.2:c.2535-4_2539del
XM_011530997.1:c.2676-4_2680del
XM_011530997.2:c.2676-4_2680del
NM_001105243.2:c.2535-1_2542del
NM_001184880.2:c.2676-1_2683del
NM_020766.3:c.2535-4_2539del