Canonical Allele Identifier: CA2588432895

Gene: PHYH

Linked Data

• gnomAD v3: 10-13283929-GGAAA-G
• gnomAD v4: 10-13283929-GGAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283935_13283938del , CM000672.2:g.13283935_13283938del	GRCh38
NC_000010.10:g.13325935_13325938del , CM000672.1:g.13325935_13325938del	GRCh37
NC_000010.9:g.13365941_13365944del	NCBI36
NG_012862.1:g.21198_21201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.679-94_679-91del MANE Select	ENSP00000263038.4:n.679-94_679-91del
ENST00000263038.8:c.679-94_679-91del	ENSP00000263038.4:n.679-94_679-91del
ENST00000396913.6:c.379-94_379-91del	ENSP00000380121.2:n.379-94_379-91del
ENST00000396920.7:c.628-94_628-91del	ENSP00000380126.3:n.628-94_628-91del
ENST00000453759.6:c.379-94_379-91del	ENSP00000412525.2:n.379-94_379-91del
NM_001037537.1:c.379-94_379-91del	NP_001032626.1:n.379-94_379-91del
NM_006214.3:c.679-94_679-91del	NP_006205.1:n.679-94_679-91del
XM_005252469.2:c.460-94_460-91del	XP_005252526.1:n.460-94_460-91del
NM_001323080.1:c.379-94_379-91del	NP_001310009.1:n.379-94_379-91del
NM_001323082.1:c.685-94_685-91del	NP_001310011.1:n.685-94_685-91del
NM_001323083.1:c.415-94_415-91del	NP_001310012.1:n.415-94_415-91del
NM_001323084.1:c.385-94_385-91del	NP_001310013.1:n.385-94_385-91del
NM_006214.4:c.679-94_679-91del MANE Select	NP_006205.1:n.679-94_679-91del
NM_001037537.2:c.379-94_379-91del	NP_001032626.1:n.379-94_379-91del
NM_001323080.2:c.379-94_379-91del	NP_001310009.1:n.379-94_379-91del
NM_001323082.2:c.685-94_685-91del	NP_001310011.1:n.685-94_685-91del
NM_001323083.2:c.415-94_415-91del	NP_001310012.1:n.415-94_415-91del
NM_001323084.2:c.385-94_385-91del	NP_001310013.1:n.385-94_385-91del