Canonical Allele Identifier: CA2786697285

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283978_13283979insACA , CM000672.2:g.13283978_13283979insACA	GRCh38
NC_000010.10:g.13325978_13325979insACA , CM000672.1:g.13325978_13325979insACA	GRCh37
NC_000010.9:g.13365984_13365985insACA	NCBI36
NG_012862.1:g.21152_21153insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.679-140_679-139insTGT MANE Select	ENSP00000263038.4:n.679-140_679-139insTGT
ENST00000263038.8:c.679-140_679-139insTGT	ENSP00000263038.4:n.679-140_679-139insTGT
ENST00000396913.6:c.379-140_379-139insTGT	ENSP00000380121.2:n.379-140_379-139insTGT
ENST00000396920.7:c.628-140_628-139insTGT	ENSP00000380126.3:n.628-140_628-139insTGT
ENST00000453759.6:c.379-140_379-139insTGT	ENSP00000412525.2:n.379-140_379-139insTGT
NM_001037537.1:c.379-140_379-139insTGT	NP_001032626.1:n.379-140_379-139insTGT
NM_006214.3:c.679-140_679-139insTGT	NP_006205.1:n.679-140_679-139insTGT
XM_005252469.2:c.460-140_460-139insTGT	XP_005252526.1:n.460-140_460-139insTGT
NM_001323080.1:c.379-140_379-139insTGT	NP_001310009.1:n.379-140_379-139insTGT
NM_001323082.1:c.685-140_685-139insTGT	NP_001310011.1:n.685-140_685-139insTGT
NM_001323083.1:c.415-140_415-139insTGT	NP_001310012.1:n.415-140_415-139insTGT
NM_001323084.1:c.385-140_385-139insTGT	NP_001310013.1:n.385-140_385-139insTGT
NM_006214.4:c.679-140_679-139insTGT MANE Select	NP_006205.1:n.679-140_679-139insTGT
NM_001037537.2:c.379-140_379-139insTGT	NP_001032626.1:n.379-140_379-139insTGT
NM_001323080.2:c.379-140_379-139insTGT	NP_001310009.1:n.379-140_379-139insTGT
NM_001323082.2:c.685-140_685-139insTGT	NP_001310011.1:n.685-140_685-139insTGT
NM_001323083.2:c.415-140_415-139insTGT	NP_001310012.1:n.415-140_415-139insTGT
NM_001323084.2:c.385-140_385-139insTGT	NP_001310013.1:n.385-140_385-139insTGT