Canonical Allele Identifier: CA2608293127

Gene: PHYH

Linked Data

• gnomAD v4: 10-13283949-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283952del , CM000672.2:g.13283952del	GRCh38
NC_000010.10:g.13325952del , CM000672.1:g.13325952del	GRCh37
NC_000010.9:g.13365958del	NCBI36
NG_012862.1:g.21181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.679-111del MANE Select	ENSP00000263038.4:n.679-111del
ENST00000263038.8:c.679-111del	ENSP00000263038.4:n.679-111del
ENST00000396913.6:c.379-111del	ENSP00000380121.2:n.379-111del
ENST00000396920.7:c.628-111del	ENSP00000380126.3:n.628-111del
ENST00000453759.6:c.379-111del	ENSP00000412525.2:n.379-111del
NM_001037537.1:c.379-111del	NP_001032626.1:n.379-111del
NM_006214.3:c.679-111del	NP_006205.1:n.679-111del
XM_005252469.2:c.460-111del	XP_005252526.1:n.460-111del
NM_001323080.1:c.379-111del	NP_001310009.1:n.379-111del
NM_001323082.1:c.685-111del	NP_001310011.1:n.685-111del
NM_001323083.1:c.415-111del	NP_001310012.1:n.415-111del
NM_001323084.1:c.385-111del	NP_001310013.1:n.385-111del
NM_006214.4:c.679-111del MANE Select	NP_006205.1:n.679-111del
NM_001037537.2:c.379-111del	NP_001032626.1:n.379-111del
NM_001323080.2:c.379-111del	NP_001310009.1:n.379-111del
NM_001323082.2:c.685-111del	NP_001310011.1:n.685-111del
NM_001323083.2:c.415-111del	NP_001310012.1:n.415-111del
NM_001323084.2:c.385-111del	NP_001310013.1:n.385-111del