Canonical Allele Identifier: CA2447976812
Gene: PCDH19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100407670_100407671delinsGC , CM000685.2:g.100407670_100407671delinsGC GRCh38
NC_000023.10:g.99662668_99662669delinsGC , CM000685.1:g.99662668_99662669delinsGC GRCh37
NC_000023.9:g.99549324_99549325delinsGC NCBI36
NG_021319.1:g.7603_7604delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.927_928delinsGC ENSP00000255531.7:p.Gly309=
ENST00000373034.8:c.927_928delinsGC MANE Select ENSP00000362125.4:p.Gly309=
ENST00000420881.6:c.927_928delinsGC ENSP00000400327.2:p.Gly309=
NM_001105243.1:c.927_928delinsGC NP_001098713.1:p.Gly309=
NM_001184880.1:c.927_928delinsGC NP_001171809.1:p.Gly309=
NM_020766.2:c.927_928delinsGC NP_065817.2:p.Gly309=
XM_011530997.1:c.927_928delinsGC XP_011529299.1:p.Gly309=
XM_011530997.2:c.927_928delinsGC XP_011529299.1:p.Gly309=
NM_001105243.2:c.927_928delinsGC NP_001098713.1:p.Gly309=
NM_001184880.2:c.927_928delinsGC MANE Select NP_001171809.1:p.Gly309=
NM_020766.3:c.927_928delinsGC NP_065817.2:p.Gly309=