Canonical Allele Identifier: CA2547241957

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350486_46350487insAC , CM000664.2:g.46350486_46350487insAC	GRCh38
NC_000002.11:g.46577625_46577626insAC , CM000664.1:g.46577625_46577626insAC	GRCh37
NC_000002.10:g.46431129_46431130insAC	NCBI36
NG_016000.1:g.58085_58086insAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.217+3423_217+3424insAC MANE Select	ENSP00000263734.3:n.217+3423_217+3424insA...
ENST00000263734.4:c.217+3423_217+3424insAC	ENSP00000263734.3:n.217+3423_217+3424insA...
ENST00000449347.5:c.217+3423_217+3424insAC	ENSP00000406137.1:n.217+3423_217+3424insA...
ENST00000475822.1:n.408+3423_408+3424insAC
NM_001430.4:c.217+3423_217+3424insAC	NP_001421.2:n.217+3423_217+3424insAC
XM_011532698.1:c.256+3423_256+3424insAC	XP_011531000.1:n.256+3423_256+3424insAC
XM_011532698.2:c.256+3423_256+3424insAC	XP_011531000.1:n.256+3423_256+3424insAC
NM_001430.5:c.217+3423_217+3424insAC MANE Select	NP_001421.2:n.217+3423_217+3424insAC