Canonical Allele Identifier: CA2786697278
Gene: PHYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283941_13283942insACA , CM000672.2:g.13283941_13283942insACA GRCh38
NC_000010.10:g.13325941_13325942insACA , CM000672.1:g.13325941_13325942insACA GRCh37
NC_000010.9:g.13365947_13365948insACA NCBI36
NG_012862.1:g.21189_21190insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.679-103_679-102insTGT MANE Select ENSP00000263038.4:n.679-103_679-102insTGT
ENST00000263038.8:c.679-103_679-102insTGT ENSP00000263038.4:n.679-103_679-102insTGT
ENST00000396913.6:c.379-103_379-102insTGT ENSP00000380121.2:n.379-103_379-102insTGT
ENST00000396920.7:c.628-103_628-102insTGT ENSP00000380126.3:n.628-103_628-102insTGT
ENST00000453759.6:c.379-103_379-102insTGT ENSP00000412525.2:n.379-103_379-102insTGT
NM_001037537.1:c.379-103_379-102insTGT NP_001032626.1:n.379-103_379-102insTGT
NM_006214.3:c.679-103_679-102insTGT NP_006205.1:n.679-103_679-102insTGT
XM_005252469.2:c.460-103_460-102insTGT XP_005252526.1:n.460-103_460-102insTGT
NM_001323080.1:c.379-103_379-102insTGT NP_001310009.1:n.379-103_379-102insTGT
NM_001323082.1:c.685-103_685-102insTGT NP_001310011.1:n.685-103_685-102insTGT
NM_001323083.1:c.415-103_415-102insTGT NP_001310012.1:n.415-103_415-102insTGT
NM_001323084.1:c.385-103_385-102insTGT NP_001310013.1:n.385-103_385-102insTGT
NM_006214.4:c.679-103_679-102insTGT MANE Select NP_006205.1:n.679-103_679-102insTGT
NM_001037537.2:c.379-103_379-102insTGT NP_001032626.1:n.379-103_379-102insTGT
NM_001323080.2:c.379-103_379-102insTGT NP_001310009.1:n.379-103_379-102insTGT
NM_001323082.2:c.685-103_685-102insTGT NP_001310011.1:n.685-103_685-102insTGT
NM_001323083.2:c.415-103_415-102insTGT NP_001310012.1:n.415-103_415-102insTGT
NM_001323084.2:c.385-103_385-102insTGT NP_001310013.1:n.385-103_385-102insTGT