Canonical Allele Identifier: CA1891546425

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283717_13283718delinsAC , CM000672.2:g.13283717_13283718delinsAC	GRCh38
NC_000010.10:g.13325717_13325718delinsAC , CM000672.1:g.13325717_13325718delinsAC	GRCh37
NC_000010.9:g.13365723_13365724delinsAC	NCBI36
NG_012862.1:g.21413_21414delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.800_801delinsGT MANE Select	ENSP00000263038.4:p.Gly267=
ENST00000263038.8:c.800_801delinsGT	ENSP00000263038.4:p.Gly267=
ENST00000396913.6:c.500_501delinsGT	ENSP00000380121.2:p.Gly167=
ENST00000396920.7:c.749_750delinsGT	ENSP00000380126.3:p.Gly250=
ENST00000453759.6:c.500_501delinsGT	ENSP00000412525.2:p.Gly167=
NM_001037537.1:c.500_501delinsGT	NP_001032626.1:p.Gly167=
NM_006214.3:c.800_801delinsGT	NP_006205.1:p.Gly267=
XM_005252469.2:c.581_582delinsGT	XP_005252526.1:p.Gly194=
NM_001323080.1:c.500_501delinsGT	NP_001310009.1:p.Gly167=
NM_001323082.1:c.806_807delinsGT	NP_001310011.1:p.Gly269=
NM_001323083.1:c.536_537delinsGT	NP_001310012.1:p.Gly179=
NM_001323084.1:c.506_507delinsGT	NP_001310013.1:p.Gly169=
NM_006214.4:c.800_801delinsGT MANE Select	NP_006205.1:p.Gly267=
NM_001037537.2:c.500_501delinsGT	NP_001032626.1:p.Gly167=
NM_001323080.2:c.500_501delinsGT	NP_001310009.1:p.Gly167=
NM_001323082.2:c.806_807delinsGT	NP_001310011.1:p.Gly269=
NM_001323083.2:c.536_537delinsGT	NP_001310012.1:p.Gly179=
NM_001323084.2:c.506_507delinsGT	NP_001310013.1:p.Gly169=