Canonical Allele Identifier: CA2495267034

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350744_46350745delinsGC , CM000664.2:g.46350744_46350745delinsGC	GRCh38
NC_000002.11:g.46577883_46577884delinsGC , CM000664.1:g.46577883_46577884delinsGC	GRCh37
NC_000002.10:g.46431387_46431388delinsGC	NCBI36
NG_016000.1:g.58343_58344delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3681_217+3682delinsGC MANE Select	ENSP00000263734.3:n.217+3681_217+3682delinsGC
ENST00000263734.4:c.217+3681_217+3682delinsGC	ENSP00000263734.3:n.217+3681_217+3682delinsGC
ENST00000449347.5:c.217+3681_217+3682delinsGC	ENSP00000406137.1:n.217+3681_217+3682delinsGC
ENST00000475822.1:n.408+3681_408+3682delinsGC
NM_001430.4:c.217+3681_217+3682delinsGC	NP_001421.2:n.217+3681_217+3682delinsGC
XM_011532698.1:c.256+3681_256+3682delinsGC	XP_011531000.1:n.256+3681_256+3682delinsGC
XM_011532698.2:c.256+3681_256+3682delinsGC	XP_011531000.1:n.256+3681_256+3682delinsGC
NM_001430.5:c.217+3681_217+3682delinsGC MANE Select	NP_001421.2:n.217+3681_217+3682delinsGC