Canonical Allele Identifier: CA2495266817

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350252_46350257delinsATTCAT , CM000664.2:g.46350252_46350257delinsATTCAT	GRCh38
NC_000002.11:g.46577391_46577396delinsATTCAT , CM000664.1:g.46577391_46577396delinsATTCAT	GRCh37
NC_000002.10:g.46430895_46430900delinsATTCAT	NCBI36
NG_016000.1:g.57851_57856delinsATTCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3189_217+3194delinsATTCAT MANE Select	ENSP00000263734.3:n.217+3189_217+3194delinsATTCAT
ENST00000263734.4:c.217+3189_217+3194delinsATTCAT	ENSP00000263734.3:n.217+3189_217+3194delinsATTCAT
ENST00000449347.5:c.217+3189_217+3194delinsATTCAT	ENSP00000406137.1:n.217+3189_217+3194delinsATTCAT
ENST00000475822.1:n.408+3189_408+3194delinsATTCAT
NM_001430.4:c.217+3189_217+3194delinsATTCAT	NP_001421.2:n.217+3189_217+3194delinsATTCAT
XM_011532698.1:c.256+3189_256+3194delinsATTCAT	XP_011531000.1:n.256+3189_256+3194delinsATTCAT
XM_011532698.2:c.256+3189_256+3194delinsATTCAT	XP_011531000.1:n.256+3189_256+3194delinsATTCAT
NM_001430.5:c.217+3189_217+3194delinsATTCAT MANE Select	NP_001421.2:n.217+3189_217+3194delinsATTCAT