Canonical Allele Identifier: CA2580081340

Gene: PHYH

Linked Data

• ClinVar Variation Id: 2114712
• ClinVar RCV Id: RCV003042923

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283781_13283788del , CM000672.2:g.13283781_13283788del	GRCh38
NC_000010.10:g.13325781_13325788del , CM000672.1:g.13325781_13325788del	GRCh37
NC_000010.9:g.13365787_13365794del	NCBI36
NG_012862.1:g.21345_21352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.732_739del MANE Select	ENSP00000263038.4:p.Arg245ProfsTer23
ENST00000263038.8:c.732_739del	ENSP00000263038.4:p.Arg245ProfsTer23
ENST00000396913.6:c.432_439del	ENSP00000380121.2:p.Arg145ProfsTer23
ENST00000396920.7:c.681_688del	ENSP00000380126.3:p.Arg228ProfsTer23
ENST00000453759.6:c.432_439del	ENSP00000412525.2:p.Arg145ProfsTer23
NM_001037537.1:c.432_439del	NP_001032626.1:p.Arg145ProfsTer23
NM_006214.3:c.732_739del	NP_006205.1:p.Arg245ProfsTer23
XM_005252469.2:c.513_520del	XP_005252526.1:p.Arg172ProfsTer23
NM_001323080.1:c.432_439del	NP_001310009.1:p.Arg145ProfsTer23
NM_001323082.1:c.738_745del	NP_001310011.1:p.Arg247ProfsTer23
NM_001323083.1:c.468_475del	NP_001310012.1:p.Arg157ProfsTer23
NM_001323084.1:c.438_445del	NP_001310013.1:p.Arg147ProfsTer23
NM_006214.4:c.732_739del MANE Select	NP_006205.1:p.Arg245ProfsTer23
NM_001037537.2:c.432_439del	NP_001032626.1:p.Arg145ProfsTer23
NM_001323080.2:c.432_439del	NP_001310009.1:p.Arg145ProfsTer23
NM_001323082.2:c.738_745del	NP_001310011.1:p.Arg247ProfsTer23
NM_001323083.2:c.468_475del	NP_001310012.1:p.Arg157ProfsTer23
NM_001323084.2:c.438_445del	NP_001310013.1:p.Arg147ProfsTer23