Canonical Allele Identifier: CA2608290942

Gene: PHYH

Linked Data

• gnomAD v4: 10-13298217-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13298220del , CM000672.2:g.13298220del	GRCh38
NC_000010.10:g.13340220del , CM000672.1:g.13340220del	GRCh37
NC_000010.9:g.13380226del	NCBI36
NG_012862.1:g.6913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.103del MANE Select	ENSP00000263038.4:p.Ser35ProfsTer19
ENST00000263038.8:c.103del	ENSP00000263038.4:p.Ser35ProfsTer19
ENST00000396913.6:c.-167+1202del	ENSP00000380121.2:n.-167+1202del
ENST00000396920.7:c.46del	ENSP00000380126.3:p.Ser16ProfsTer19
ENST00000453759.6:c.-198del	ENSP00000412525.2:n.-198del
ENST00000463730.1:n.158del
ENST00000479604.1:c.103del	ENSP00000420117.1:p.Ser35ProfsTer19
NM_001037537.1:c.-167+1202del	NP_001032626.1:n.-167+1202del
NM_006214.3:c.103del	NP_006205.1:p.Ser35ProfsTer19
XM_005252469.2:c.148del	XP_005252526.1:p.Ser50ProfsTer19
NM_001323080.1:c.-198del	NP_001310009.1:n.-198del
NM_001323082.1:c.103del	NP_001310011.1:p.Ser35ProfsTer19
NM_001323083.1:c.103del	NP_001310012.1:p.Ser35ProfsTer19
NM_001323084.1:c.-167+1202del	NP_001310013.1:n.-167+1202del
NM_006214.4:c.103del MANE Select	NP_006205.1:p.Ser35ProfsTer19
NM_001037537.2:c.-167+1202del	NP_001032626.1:n.-167+1202del
NM_001323080.2:c.-198del	NP_001310009.1:n.-198del
NM_001323082.2:c.103del	NP_001310011.1:p.Ser35ProfsTer19
NM_001323083.2:c.103del	NP_001310012.1:p.Ser35ProfsTer19
NM_001323084.2:c.-167+1202del	NP_001310013.1:n.-167+1202del