Canonical Allele Identifier: CA2495266998

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350660_46350664delinsAGGGT , CM000664.2:g.46350660_46350664delinsAGGGT	GRCh38
NC_000002.11:g.46577799_46577803delinsAGGGT , CM000664.1:g.46577799_46577803delinsAGGGT	GRCh37
NC_000002.10:g.46431303_46431307delinsAGGGT	NCBI36
NG_016000.1:g.58259_58263delinsAGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3597_217+3601delinsAGGGT MANE Select	ENSP00000263734.3:n.217+3597_217+3601delinsAGGGT
ENST00000263734.4:c.217+3597_217+3601delinsAGGGT	ENSP00000263734.3:n.217+3597_217+3601delinsAGGGT
ENST00000449347.5:c.217+3597_217+3601delinsAGGGT	ENSP00000406137.1:n.217+3597_217+3601delinsAGGGT
ENST00000475822.1:n.408+3597_408+3601delinsAGGGT
NM_001430.4:c.217+3597_217+3601delinsAGGGT	NP_001421.2:n.217+3597_217+3601delinsAGGGT
XM_011532698.1:c.256+3597_256+3601delinsAGGGT	XP_011531000.1:n.256+3597_256+3601delinsAGGGT
XM_011532698.2:c.256+3597_256+3601delinsAGGGT	XP_011531000.1:n.256+3597_256+3601delinsAGGGT
NM_001430.5:c.217+3597_217+3601delinsAGGGT MANE Select	NP_001421.2:n.217+3597_217+3601delinsAGGGT