Canonical Allele Identifier: CA2739265289

Gene: PHYH

Linked Data

• ClinVar Variation Id: 2840913
• ClinVar RCV Id: RCV003718749

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283784_13283785delinsTA , CM000672.2:g.13283784_13283785delinsTA	GRCh38
NC_000010.10:g.13325784_13325785delinsTA , CM000672.1:g.13325784_13325785delinsTA	GRCh37
NC_000010.9:g.13365790_13365791delinsTA	NCBI36
NG_012862.1:g.21346_21347delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.733_734delinsTA MANE Select	ENSP00000263038.4:p.Arg245Ter
ENST00000263038.8:c.733_734delinsTA	ENSP00000263038.4:p.Arg245Ter
ENST00000396913.6:c.433_434delinsTA	ENSP00000380121.2:p.Arg145Ter
ENST00000396920.7:c.682_683delinsTA	ENSP00000380126.3:p.Arg228Ter
ENST00000453759.6:c.433_434delinsTA	ENSP00000412525.2:p.Arg145Ter
NM_001037537.1:c.433_434delinsTA	NP_001032626.1:p.Arg145Ter
NM_006214.3:c.733_734delinsTA	NP_006205.1:p.Arg245Ter
XM_005252469.2:c.514_515delinsTA	XP_005252526.1:p.Arg172Ter
NM_001323080.1:c.433_434delinsTA	NP_001310009.1:p.Arg145Ter
NM_001323082.1:c.739_740delinsTA	NP_001310011.1:p.Arg247Ter
NM_001323083.1:c.469_470delinsTA	NP_001310012.1:p.Arg157Ter
NM_001323084.1:c.439_440delinsTA	NP_001310013.1:p.Arg147Ter
NM_006214.4:c.733_734delinsTA MANE Select	NP_006205.1:p.Arg245Ter
NM_001037537.2:c.433_434delinsTA	NP_001032626.1:p.Arg145Ter
NM_001323080.2:c.433_434delinsTA	NP_001310009.1:p.Arg145Ter
NM_001323082.2:c.739_740delinsTA	NP_001310011.1:p.Arg247Ter
NM_001323083.2:c.469_470delinsTA	NP_001310012.1:p.Arg157Ter
NM_001323084.2:c.439_440delinsTA	NP_001310013.1:p.Arg147Ter