Canonical Allele Identifier: CA2495267012

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350680_46350681delinsAG , CM000664.2:g.46350680_46350681delinsAG	GRCh38
NC_000002.11:g.46577819_46577820delinsAG , CM000664.1:g.46577819_46577820delinsAG	GRCh37
NC_000002.10:g.46431323_46431324delinsAG	NCBI36
NG_016000.1:g.58279_58280delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3617_217+3618delinsAG MANE Select	ENSP00000263734.3:n.217+3617_217+3618delinsAG
ENST00000263734.4:c.217+3617_217+3618delinsAG	ENSP00000263734.3:n.217+3617_217+3618delinsAG
ENST00000449347.5:c.217+3617_217+3618delinsAG	ENSP00000406137.1:n.217+3617_217+3618delinsAG
ENST00000475822.1:n.408+3617_408+3618delinsAG
NM_001430.4:c.217+3617_217+3618delinsAG	NP_001421.2:n.217+3617_217+3618delinsAG
XM_011532698.1:c.256+3617_256+3618delinsAG	XP_011531000.1:n.256+3617_256+3618delinsAG
XM_011532698.2:c.256+3617_256+3618delinsAG	XP_011531000.1:n.256+3617_256+3618delinsAG
NM_001430.5:c.217+3617_217+3618delinsAG MANE Select	NP_001421.2:n.217+3617_217+3618delinsAG