Canonical Allele Identifier: CA2574492071

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283784del , CM000672.2:g.13283784del	GRCh38
NC_000010.10:g.13325784del , CM000672.1:g.13325784del	GRCh37
NC_000010.9:g.13365790del	NCBI36
NG_012862.1:g.21349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.736del MANE Select	ENSP00000263038.4:p.Val246CysfsTer4
ENST00000263038.8:c.736del	ENSP00000263038.4:p.Val246CysfsTer4
ENST00000396913.6:c.436del	ENSP00000380121.2:p.Val146CysfsTer4
ENST00000396920.7:c.685del	ENSP00000380126.3:p.Val229CysfsTer4
ENST00000453759.6:c.436del	ENSP00000412525.2:p.Val146CysfsTer4
NM_001037537.1:c.436del	NP_001032626.1:p.Val146CysfsTer4
NM_006214.3:c.736del	NP_006205.1:p.Val246CysfsTer4
XM_005252469.2:c.517del	XP_005252526.1:p.Val173CysfsTer4
NM_001323080.1:c.436del	NP_001310009.1:p.Val146CysfsTer4
NM_001323082.1:c.742del	NP_001310011.1:p.Val248CysfsTer4
NM_001323083.1:c.472del	NP_001310012.1:p.Val158CysfsTer4
NM_001323084.1:c.442del	NP_001310013.1:p.Val148CysfsTer4
NM_006214.4:c.736del MANE Select	NP_006205.1:p.Val246CysfsTer4
NM_001037537.2:c.436del	NP_001032626.1:p.Val146CysfsTer4
NM_001323080.2:c.436del	NP_001310009.1:p.Val146CysfsTer4
NM_001323082.2:c.742del	NP_001310011.1:p.Val248CysfsTer4
NM_001323083.2:c.472del	NP_001310012.1:p.Val158CysfsTer4
NM_001323084.2:c.442del	NP_001310013.1:p.Val148CysfsTer4