Canonical Allele Identifier: CA2759867321
Gene: P3H2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189995570_189995571insTTTTTTTTTTGGT , CM000665.2:g.189995570_189995571insTTTTTTTTTTGGT GRCh38
NC_000003.11:g.189713359_189713360insTTTTTTTTTTGGT , CM000665.1:g.189713359_189713360insTTTTTTTTTTGGT GRCh37
NC_000003.10:g.191196053_191196054insTTTTTTTTTTGGT NCBI36
NG_031929.1:g.131868_131869insCCAAAAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000319332.10:c.481-128_481-127insCCAAAAAAAAAAA MANE Select ENSP00000316881.5:n.481-128_481-127insCCAAAAAAAAAAA
ENST00000319332.9:c.481-128_481-127insCCAAAAAAAAAAA ENSP00000316881.5:n.481-128_481-127insCCAAAAAAAAAAA
ENST00000426003.1:c.-63-128_-63-127insCCAAAAAAAAAAA ENSP00000394326.1:n.-63-128_-63-127insCCAAAAAAAAAAA
ENST00000427335.6:c.-63-128_-63-127insCCAAAAAAAAAAA ENSP00000408947.2:n.-63-128_-63-127insCCAAAAAAAAAAA
ENST00000444866.5:c.-63-128_-63-127insCCAAAAAAAAAAA ENSP00000391374.1:n.-63-128_-63-127insCCAAAAAAAAAAA
NM_001134418.1:c.-63-128_-63-127insCCAAAAAAAAAAA NP_001127890.1:n.-63-128_-63-127insCCAAAAAAAAAAA
NM_018192.3:c.481-128_481-127insCCAAAAAAAAAAA NP_060662.2:n.481-128_481-127insCCAAAAAAAAAAA
XM_011512955.1:c.-63-128_-63-127insCCAAAAAAAAAAA XP_011511257.1:n.-63-128_-63-127insCCAAAAAAAAAAA
NM_018192.4:c.481-128_481-127insCCAAAAAAAAAAA MANE Select NP_060662.2:n.481-128_481-127insCCAAAAAAAAAAA
NM_001134418.2:c.-63-128_-63-127insCCAAAAAAAAAAA NP_001127890.1:n.-63-128_-63-127insCCAAAAAAAAAAA