Canonical Allele Identifier: CA2495266868

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350361_46350362delinsGT , CM000664.2:g.46350361_46350362delinsGT	GRCh38
NC_000002.11:g.46577500_46577501delinsGT , CM000664.1:g.46577500_46577501delinsGT	GRCh37
NC_000002.10:g.46431004_46431005delinsGT	NCBI36
NG_016000.1:g.57960_57961delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.217+3298_217+3299delinsGT MANE Select	ENSP00000263734.3:n.217+3298_217+3299deli...
ENST00000263734.4:c.217+3298_217+3299delinsGT	ENSP00000263734.3:n.217+3298_217+3299deli...
ENST00000449347.5:c.217+3298_217+3299delinsGT	ENSP00000406137.1:n.217+3298_217+3299deli...
ENST00000475822.1:n.408+3298_408+3299delinsGT
NM_001430.4:c.217+3298_217+3299delinsGT	NP_001421.2:n.217+3298_217+3299delinsGT
XM_011532698.1:c.256+3298_256+3299delinsGT	XP_011531000.1:n.256+3298_256+3299delinsG...
XM_011532698.2:c.256+3298_256+3299delinsGT	XP_011531000.1:n.256+3298_256+3299delinsG...
NM_001430.5:c.217+3298_217+3299delinsGT MANE Select	NP_001421.2:n.217+3298_217+3299delinsGT