Canonical Allele Identifier: CA2495266820

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350256_46350260delinsATTAT , CM000664.2:g.46350256_46350260delinsATTAT	GRCh38
NC_000002.11:g.46577395_46577399delinsATTAT , CM000664.1:g.46577395_46577399delinsATTAT	GRCh37
NC_000002.10:g.46430899_46430903delinsATTAT	NCBI36
NG_016000.1:g.57855_57859delinsATTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3193_217+3197delinsATTAT MANE Select	ENSP00000263734.3:n.217+3193_217+3197delinsATTAT
ENST00000263734.4:c.217+3193_217+3197delinsATTAT	ENSP00000263734.3:n.217+3193_217+3197delinsATTAT
ENST00000449347.5:c.217+3193_217+3197delinsATTAT	ENSP00000406137.1:n.217+3193_217+3197delinsATTAT
ENST00000475822.1:n.408+3193_408+3197delinsATTAT
NM_001430.4:c.217+3193_217+3197delinsATTAT	NP_001421.2:n.217+3193_217+3197delinsATTAT
XM_011532698.1:c.256+3193_256+3197delinsATTAT	XP_011531000.1:n.256+3193_256+3197delinsATTAT
XM_011532698.2:c.256+3193_256+3197delinsATTAT	XP_011531000.1:n.256+3193_256+3197delinsATTAT
NM_001430.5:c.217+3193_217+3197delinsATTAT MANE Select	NP_001421.2:n.217+3193_217+3197delinsATTAT