Canonical Allele Identifier: CA2569589344

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283416_13283418del , CM000672.2:g.13283416_13283418del	GRCh38
NC_000010.10:g.13325416_13325418del , CM000672.1:g.13325416_13325418del	GRCh37
NC_000010.9:g.13365422_13365424del	NCBI36
NG_012862.1:g.21715_21717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.828+274_828+276del MANE Select	ENSP00000263038.4:n.828+274_828+276del
ENST00000263038.8:c.828+274_828+276del	ENSP00000263038.4:n.828+274_828+276del
ENST00000396913.6:c.528+274_528+276del	ENSP00000380121.2:n.528+274_528+276del
ENST00000396920.7:c.777+274_777+276del	ENSP00000380126.3:n.777+274_777+276del
NM_001037537.1:c.528+274_528+276del	NP_001032626.1:n.528+274_528+276del
NM_006214.3:c.828+274_828+276del	NP_006205.1:n.828+274_828+276del
XM_005252469.2:c.609+274_609+276del	XP_005252526.1:n.609+274_609+276del
NM_001323080.1:c.528+274_528+276del	NP_001310009.1:n.528+274_528+276del
NM_001323082.1:c.834+274_834+276del	NP_001310011.1:n.834+274_834+276del
NM_001323083.1:c.564+274_564+276del	NP_001310012.1:n.564+274_564+276del
NM_001323084.1:c.534+274_534+276del	NP_001310013.1:n.534+274_534+276del
NM_006214.4:c.828+274_828+276del MANE Select	NP_006205.1:n.828+274_828+276del
NM_001037537.2:c.528+274_528+276del	NP_001032626.1:n.528+274_528+276del
NM_001323080.2:c.528+274_528+276del	NP_001310009.1:n.528+274_528+276del
NM_001323082.2:c.834+274_834+276del	NP_001310011.1:n.834+274_834+276del
NM_001323083.2:c.564+274_564+276del	NP_001310012.1:n.564+274_564+276del
NM_001323084.2:c.534+274_534+276del	NP_001310013.1:n.534+274_534+276del