Canonical Allele Identifier: CA1030176482

Gene: EPAS1

Linked Data

• dbSNP Id: rs1684122479
• gnomAD v3: 2-46350311-G-GATT
• gnomAD v4: 2-46350311-G-GATT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350311_46350312insATT , CM000664.2:g.46350311_46350312insATT	GRCh38
NC_000002.11:g.46577450_46577451insATT , CM000664.1:g.46577450_46577451insATT	GRCh37
NC_000002.10:g.46430954_46430955insATT	NCBI36
NG_016000.1:g.57910_57911insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3248_217+3249insATT MANE Select	ENSP00000263734.3:n.217+3248_217+3249insATT
ENST00000263734.4:c.217+3248_217+3249insATT	ENSP00000263734.3:n.217+3248_217+3249insATT
ENST00000449347.5:c.217+3248_217+3249insATT	ENSP00000406137.1:n.217+3248_217+3249insATT
ENST00000475822.1:n.408+3248_408+3249insATT
NM_001430.4:c.217+3248_217+3249insATT	NP_001421.2:n.217+3248_217+3249insATT
XM_011532698.1:c.256+3248_256+3249insATT	XP_011531000.1:n.256+3248_256+3249insATT
XM_011532698.2:c.256+3248_256+3249insATT	XP_011531000.1:n.256+3248_256+3249insATT
NM_001430.5:c.217+3248_217+3249insATT MANE Select	NP_001421.2:n.217+3248_217+3249insATT