Canonical Allele Identifier: CA276015

Gene: PHYH

Linked Data

• ClinVar Variation Id: 208603
• ClinVar RCV Id: RCV000190614
• dbSNP Id: rs797045100
• MyVariant Identifiers: chr10:g.13325751_13325752del (hg19) ; chr10:g.13283751_13283752del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283752_13283753del , CM000672.2:g.13283752_13283753del	GRCh38
NC_000010.10:g.13325752_13325753del , CM000672.1:g.13325752_13325753del	GRCh37
NC_000010.9:g.13365758_13365759del	NCBI36
NG_012862.1:g.21379_21380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.766_767del MANE Select	ENSP00000263038.4:p.Val256PhefsTer14
ENST00000263038.8:c.766_767del	ENSP00000263038.4:p.Val256PhefsTer14
ENST00000396913.6:c.466_467del	ENSP00000380121.2:p.Val156PhefsTer14
ENST00000396920.7:c.715_716del	ENSP00000380126.3:p.Val239PhefsTer14
ENST00000453759.6:c.466_467del	ENSP00000412525.2:p.Val156PhefsTer14
NM_001037537.1:c.466_467del	NP_001032626.1:p.Val156PhefsTer14
NM_006214.3:c.766_767del	NP_006205.1:p.Val256PhefsTer14
XM_005252469.2:c.547_548del	XP_005252526.1:p.Val183PhefsTer14
NM_001323080.1:c.466_467del	NP_001310009.1:p.Val156PhefsTer14
NM_001323082.1:c.772_773del	NP_001310011.1:p.Val258PhefsTer14
NM_001323083.1:c.502_503del	NP_001310012.1:p.Val168PhefsTer14
NM_001323084.1:c.472_473del	NP_001310013.1:p.Val158PhefsTer14
NM_006214.4:c.766_767del MANE Select	NP_006205.1:p.Val256PhefsTer14
NM_001037537.2:c.466_467del	NP_001032626.1:p.Val156PhefsTer14
NM_001323080.2:c.466_467del	NP_001310009.1:p.Val156PhefsTer14
NM_001323082.2:c.772_773del	NP_001310011.1:p.Val258PhefsTer14
NM_001323083.2:c.502_503del	NP_001310012.1:p.Val168PhefsTer14
NM_001323084.2:c.472_473del	NP_001310013.1:p.Val158PhefsTer14