Canonical Allele Identifier: CA1891517016

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283294_13283295delinsTA , CM000672.2:g.13283294_13283295delinsTA	GRCh38
NC_000010.10:g.13325294_13325295delinsTA , CM000672.1:g.13325294_13325295delinsTA	GRCh37
NC_000010.9:g.13365300_13365301delinsTA	NCBI36
NG_012862.1:g.21836_21837delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.828+395_828+396delinsTA MANE Select	ENSP00000263038.4:n.828+395_828+396delinsTA
ENST00000263038.8:c.828+395_828+396delinsTA	ENSP00000263038.4:n.828+395_828+396delinsTA
ENST00000396913.6:c.528+395_528+396delinsTA	ENSP00000380121.2:n.528+395_528+396delinsTA
ENST00000396920.7:c.777+395_777+396delinsTA	ENSP00000380126.3:n.777+395_777+396delinsTA
NM_001037537.1:c.528+395_528+396delinsTA	NP_001032626.1:n.528+395_528+396delinsTA
NM_006214.3:c.828+395_828+396delinsTA	NP_006205.1:n.828+395_828+396delinsTA
XM_005252469.2:c.609+395_609+396delinsTA	XP_005252526.1:n.609+395_609+396delinsTA
NM_001323080.1:c.528+395_528+396delinsTA	NP_001310009.1:n.528+395_528+396delinsTA
NM_001323082.1:c.834+395_834+396delinsTA	NP_001310011.1:n.834+395_834+396delinsTA
NM_001323083.1:c.564+395_564+396delinsTA	NP_001310012.1:n.564+395_564+396delinsTA
NM_001323084.1:c.534+395_534+396delinsTA	NP_001310013.1:n.534+395_534+396delinsTA
NM_006214.4:c.828+395_828+396delinsTA MANE Select	NP_006205.1:n.828+395_828+396delinsTA
NM_001037537.2:c.528+395_528+396delinsTA	NP_001032626.1:n.528+395_528+396delinsTA
NM_001323080.2:c.528+395_528+396delinsTA	NP_001310009.1:n.528+395_528+396delinsTA
NM_001323082.2:c.834+395_834+396delinsTA	NP_001310011.1:n.834+395_834+396delinsTA
NM_001323083.2:c.564+395_564+396delinsTA	NP_001310012.1:n.564+395_564+396delinsTA
NM_001323084.2:c.534+395_534+396delinsTA	NP_001310013.1:n.534+395_534+396delinsTA