Canonical Allele Identifier: CA2556062903

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350490_46350491del , CM000664.2:g.46350490_46350491del	GRCh38
NC_000002.11:g.46577629_46577630del , CM000664.1:g.46577629_46577630del	GRCh37
NC_000002.10:g.46431133_46431134del	NCBI36
NG_016000.1:g.58089_58090del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.217+3427_217+3428del MANE Select	ENSP00000263734.3:n.217+3427_217+3428del
ENST00000263734.4:c.217+3427_217+3428del	ENSP00000263734.3:n.217+3427_217+3428del
ENST00000449347.5:c.217+3427_217+3428del	ENSP00000406137.1:n.217+3427_217+3428del
ENST00000475822.1:n.408+3427_408+3428del
NM_001430.4:c.217+3427_217+3428del	NP_001421.2:n.217+3427_217+3428del
XM_011532698.1:c.256+3427_256+3428del	XP_011531000.1:n.256+3427_256+3428del
XM_011532698.2:c.256+3427_256+3428del	XP_011531000.1:n.256+3427_256+3428del
NM_001430.5:c.217+3427_217+3428del MANE Select	NP_001421.2:n.217+3427_217+3428del