Canonical Allele Identifier: CA2447976625
Gene: PCDH19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100407187_100407188delinsAG , CM000685.2:g.100407187_100407188delinsAG GRCh38
NC_000023.10:g.99662185_99662186delinsAG , CM000685.1:g.99662185_99662186delinsAG GRCh37
NC_000023.9:g.99548841_99548842delinsAG NCBI36
NG_021319.1:g.8086_8087delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.1410_1411delinsCT ENSP00000255531.7:p.Ala470=
ENST00000373034.8:c.1410_1411delinsCT MANE Select ENSP00000362125.4:p.Ala470=
ENST00000420881.6:c.1410_1411delinsCT ENSP00000400327.2:p.Ala470=
NM_001105243.1:c.1410_1411delinsCT NP_001098713.1:p.Ala470=
NM_001184880.1:c.1410_1411delinsCT NP_001171809.1:p.Ala470=
NM_020766.2:c.1410_1411delinsCT NP_065817.2:p.Ala470=
XM_011530997.1:c.1410_1411delinsCT XP_011529299.1:p.Ala470=
XM_011530997.2:c.1410_1411delinsCT XP_011529299.1:p.Ala470=
NM_001105243.2:c.1410_1411delinsCT NP_001098713.1:p.Ala470=
NM_001184880.2:c.1410_1411delinsCT MANE Select NP_001171809.1:p.Ala470=
NM_020766.3:c.1410_1411delinsCT NP_065817.2:p.Ala470=