Canonical Allele Identifier: CA10576038

Gene: P3H2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190120440del , CM000665.2:g.190120440del	GRCh38
NC_000003.11:g.189838229del , CM000665.1:g.189838229del	GRCh37
NC_000003.10:g.191320923del	NCBI36
NG_031929.1:g.7003del

Transcript Alleles

HGVS	Amino-acid Change
NM_018192.4:c.297del MANE Select	NP_060662.2:p.Gly100AlafsTer?
ENST00000319332.10:c.297del MANE Select	ENSP00000316881.5:p.Gly100AlafsTer?
NM_001134418.1:c.-64+1768del	NP_001127890.1:n.-64+1768del
NM_001134418.2:c.-64+1768del	NP_001127890.1:n.-64+1768del
NM_018192.3:c.297del	NP_060662.2:p.Gly100AlafsTer?
ENST00000319332.9:c.297del	ENSP00000316881.5:p.Gly100AlafsTer?
ENST00000426003.1:c.-64+1102del	ENSP00000394326.1:n.-64+1102del
ENST00000427335.6:c.-64+1768del	ENSP00000408947.2:n.-64+1768del
XM_011512955.1:c.-64+1102del	XP_011511257.1:n.-64+1102del