Canonical Allele Identifier: CA2495266826

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350281_46350282delinsTG , CM000664.2:g.46350281_46350282delinsTG	GRCh38
NC_000002.11:g.46577420_46577421delinsTG , CM000664.1:g.46577420_46577421delinsTG	GRCh37
NC_000002.10:g.46430924_46430925delinsTG	NCBI36
NG_016000.1:g.57880_57881delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3218_217+3219delinsTG MANE Select	ENSP00000263734.3:n.217+3218_217+3219delinsTG
ENST00000263734.4:c.217+3218_217+3219delinsTG	ENSP00000263734.3:n.217+3218_217+3219delinsTG
ENST00000449347.5:c.217+3218_217+3219delinsTG	ENSP00000406137.1:n.217+3218_217+3219delinsTG
ENST00000475822.1:n.408+3218_408+3219delinsTG
NM_001430.4:c.217+3218_217+3219delinsTG	NP_001421.2:n.217+3218_217+3219delinsTG
XM_011532698.1:c.256+3218_256+3219delinsTG	XP_011531000.1:n.256+3218_256+3219delinsTG
XM_011532698.2:c.256+3218_256+3219delinsTG	XP_011531000.1:n.256+3218_256+3219delinsTG
NM_001430.5:c.217+3218_217+3219delinsTG MANE Select	NP_001421.2:n.217+3218_217+3219delinsTG