Canonical Allele Identifier: CA2495266986

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350641_46350652delinsCACAAACCATGA , CM000664.2:g.46350641_46350652delinsCACAAACCATGA	GRCh38
NC_000002.11:g.46577780_46577791delinsCACAAACCATGA , CM000664.1:g.46577780_46577791delinsCACAAACCATGA	GRCh37
NC_000002.10:g.46431284_46431295delinsCACAAACCATGA	NCBI36
NG_016000.1:g.58240_58251delinsCACAAACCATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3578_217+3589delinsCACAAACCATGA MANE Select	ENSP00000263734.3:n.217+3578_217+3589delinsCACAAACCATGA
ENST00000263734.4:c.217+3578_217+3589delinsCACAAACCATGA	ENSP00000263734.3:n.217+3578_217+3589delinsCACAAACCATGA
ENST00000449347.5:c.217+3578_217+3589delinsCACAAACCATGA	ENSP00000406137.1:n.217+3578_217+3589delinsCACAAACCATGA
ENST00000475822.1:n.408+3578_408+3589delinsCACAAACCATGA
NM_001430.4:c.217+3578_217+3589delinsCACAAACCATGA	NP_001421.2:n.217+3578_217+3589delinsCACAAACCATGA
XM_011532698.1:c.256+3578_256+3589delinsCACAAACCATGA	XP_011531000.1:n.256+3578_256+3589delinsCACAAACCATGA
XM_011532698.2:c.256+3578_256+3589delinsCACAAACCATGA	XP_011531000.1:n.256+3578_256+3589delinsCACAAACCATGA
NM_001430.5:c.217+3578_217+3589delinsCACAAACCATGA MANE Select	NP_001421.2:n.217+3578_217+3589delinsCACAAACCATGA