Canonical Allele Identifier: CA2447976909
Gene: PCDH19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100407892_100407895delinsGGTT , CM000685.2:g.100407892_100407895delinsGGTT GRCh38
NC_000023.10:g.99662890_99662893delinsGGTT , CM000685.1:g.99662890_99662893delinsGGTT GRCh37
NC_000023.9:g.99549546_99549549delinsGGTT NCBI36
NG_021319.1:g.7379_7382delinsAACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.703_706delinsAACC ENSP00000255531.7:p.Asn235=
ENST00000373034.8:c.703_706delinsAACC MANE Select ENSP00000362125.4:p.Asn235=
ENST00000420881.6:c.703_706delinsAACC ENSP00000400327.2:p.Asn235=
NM_001105243.1:c.703_706delinsAACC NP_001098713.1:p.Asn235=
NM_001184880.1:c.703_706delinsAACC NP_001171809.1:p.Asn235=
NM_020766.2:c.703_706delinsAACC NP_065817.2:p.Asn235=
XM_011530997.1:c.703_706delinsAACC XP_011529299.1:p.Asn235=
XM_011530997.2:c.703_706delinsAACC XP_011529299.1:p.Asn235=
NM_001105243.2:c.703_706delinsAACC NP_001098713.1:p.Asn235=
NM_001184880.2:c.703_706delinsAACC MANE Select NP_001171809.1:p.Asn235=
NM_020766.3:c.703_706delinsAACC NP_065817.2:p.Asn235=