Canonical Allele Identifier: CA2495266979

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350629_46350630delinsCA , CM000664.2:g.46350629_46350630delinsCA	GRCh38
NC_000002.11:g.46577768_46577769delinsCA , CM000664.1:g.46577768_46577769delinsCA	GRCh37
NC_000002.10:g.46431272_46431273delinsCA	NCBI36
NG_016000.1:g.58228_58229delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3566_217+3567delinsCA MANE Select	ENSP00000263734.3:n.217+3566_217+3567delinsCA
ENST00000263734.4:c.217+3566_217+3567delinsCA	ENSP00000263734.3:n.217+3566_217+3567delinsCA
ENST00000449347.5:c.217+3566_217+3567delinsCA	ENSP00000406137.1:n.217+3566_217+3567delinsCA
ENST00000475822.1:n.408+3566_408+3567delinsCA
NM_001430.4:c.217+3566_217+3567delinsCA	NP_001421.2:n.217+3566_217+3567delinsCA
XM_011532698.1:c.256+3566_256+3567delinsCA	XP_011531000.1:n.256+3566_256+3567delinsCA
XM_011532698.2:c.256+3566_256+3567delinsCA	XP_011531000.1:n.256+3566_256+3567delinsCA
NM_001430.5:c.217+3566_217+3567delinsCA MANE Select	NP_001421.2:n.217+3566_217+3567delinsCA