Canonical Allele Identifier: CA2495266876

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350382_46350387delinsTCTTTA , CM000664.2:g.46350382_46350387delinsTCTTTA	GRCh38
NC_000002.11:g.46577521_46577526delinsTCTTTA , CM000664.1:g.46577521_46577526delinsTCTTTA	GRCh37
NC_000002.10:g.46431025_46431030delinsTCTTTA	NCBI36
NG_016000.1:g.57981_57986delinsTCTTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.217+3319_217+3324delinsTCTTTA MANE Select	ENSP00000263734.3:n.217+3319_217+3324deli...
ENST00000263734.4:c.217+3319_217+3324delinsTCTTTA	ENSP00000263734.3:n.217+3319_217+3324deli...
ENST00000449347.5:c.217+3319_217+3324delinsTCTTTA	ENSP00000406137.1:n.217+3319_217+3324deli...
ENST00000475822.1:n.408+3319_408+3324delinsTCTTTA
NM_001430.4:c.217+3319_217+3324delinsTCTTTA	NP_001421.2:n.217+3319_217+3324delinsTCTT...
XM_011532698.1:c.256+3319_256+3324delinsTCTTTA	XP_011531000.1:n.256+3319_256+3324delinsT...
XM_011532698.2:c.256+3319_256+3324delinsTCTTTA	XP_011531000.1:n.256+3319_256+3324delinsT...
NM_001430.5:c.217+3319_217+3324delinsTCTTTA MANE Select	NP_001421.2:n.217+3319_217+3324delinsTCTT...