Canonical Allele Identifier: CA2580062768

Gene: P3H1

Linked Data

• ClinVar Variation Id: 1930400
• ClinVar RCV Id: RCV002618895

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42766759_42766767dup , CM000663.2:g.42766759_42766767dup	GRCh38
NC_000001.10:g.43232430_43232438dup , CM000663.1:g.43232430_43232438dup	GRCh37
NC_000001.9:g.43005017_43005025dup	NCBI36
NG_008123.1:g.5321_5329dup , LRG_5:g.5321_5329dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.208_216dup MANE Select	ENSP00000296388.5:p.Arg72_Leu73insAlaLeuArg
ENST00000236040.8:c.208_216dup	ENSP00000236040.4:p.Arg72_Leu73insAlaLeuArg
ENST00000296388.9:c.208_216dup	ENSP00000296388.5:p.Arg72_Leu73insAlaLeuArg
ENST00000372526.2:c.208_216dup	ENSP00000361604.2:p.Arg72_Leu73insAlaLeuArg
ENST00000397054.7:c.208_216dup	ENSP00000380245.3:p.Arg72_Leu73insAlaLeuArg
ENST00000460031.5:n.226_234dup
ENST00000492956.1:n.254_262dup
ENST00000495874.5:n.259_267dup
NM_001146289.1:c.208_216dup , LRG_5t2:c.208_216dup	NP_001139761.1:p.Arg72_Leu73insAlaLeuArg
NM_001243246.1:c.208_216dup , LRG_5t3:c.208_216dup	NP_001230175.1:p.Arg72_Leu73insAlaLeuArg
NM_022356.3:c.208_216dup , LRG_5t1:c.208_216dup	NP_071751.3:p.Arg72_Leu73insAlaLeuArg
XR_946739.1:n.265_273dup
XM_017002051.2:c.-823_-815dup	XP_016857540.1:n.-823_-815dup
XM_017002052.2:c.-823_-815dup	XP_016857541.1:n.-823_-815dup
XR_946739.2:n.265_273dup
NM_022356.4:c.208_216dup MANE Select	NP_071751.3:p.Arg72_Leu73insAlaLeuArg
NM_001146289.2:c.208_216dup	NP_001139761.1:p.Arg72_Leu73insAlaLeuArg
NM_001243246.2:c.208_216dup	NP_001230175.1:p.Arg72_Leu73insAlaLeuArg