Canonical Allele Identifier: CA1428575147
Gene: P3H2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189995548_189995549delinsGA , CM000665.2:g.189995548_189995549delinsGA GRCh38
NC_000003.11:g.189713337_189713338delinsGA , CM000665.1:g.189713337_189713338delinsGA GRCh37
NC_000003.10:g.191196031_191196032delinsGA NCBI36
NG_031929.1:g.131889_131890delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000319332.10:c.481-107_481-106delinsTC MANE Select ENSP00000316881.5:n.481-107_481-106delinsTC
ENST00000319332.9:c.481-107_481-106delinsTC ENSP00000316881.5:n.481-107_481-106delinsTC
ENST00000426003.1:c.-63-107_-63-106delinsTC ENSP00000394326.1:n.-63-107_-63-106delinsTC
ENST00000427335.6:c.-63-107_-63-106delinsTC ENSP00000408947.2:n.-63-107_-63-106delinsTC
ENST00000444866.5:c.-63-107_-63-106delinsTC ENSP00000391374.1:n.-63-107_-63-106delinsTC
NM_001134418.1:c.-63-107_-63-106delinsTC NP_001127890.1:n.-63-107_-63-106delinsTC
NM_018192.3:c.481-107_481-106delinsTC NP_060662.2:n.481-107_481-106delinsTC
XM_011512955.1:c.-63-107_-63-106delinsTC XP_011511257.1:n.-63-107_-63-106delinsTC
NM_018192.4:c.481-107_481-106delinsTC MANE Select NP_060662.2:n.481-107_481-106delinsTC
NM_001134418.2:c.-63-107_-63-106delinsTC NP_001127890.1:n.-63-107_-63-106delinsTC