Canonical Allele Identifier: CA1030176562

Gene: EPAS1

Linked Data

• gnomAD v3: 2-46350581-T-TG
• gnomAD v4: 2-46350581-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350581_46350582insG , CM000664.2:g.46350581_46350582insG	GRCh38
NC_000002.11:g.46577720_46577721insG , CM000664.1:g.46577720_46577721insG	GRCh37
NC_000002.10:g.46431224_46431225insG	NCBI36
NG_016000.1:g.58180_58181insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3518_217+3519insG MANE Select	ENSP00000263734.3:n.217+3518_217+3519insG
ENST00000263734.4:c.217+3518_217+3519insG	ENSP00000263734.3:n.217+3518_217+3519insG
ENST00000449347.5:c.217+3518_217+3519insG	ENSP00000406137.1:n.217+3518_217+3519insG
ENST00000475822.1:n.408+3518_408+3519insG
NM_001430.4:c.217+3518_217+3519insG	NP_001421.2:n.217+3518_217+3519insG
XM_011532698.1:c.256+3518_256+3519insG	XP_011531000.1:n.256+3518_256+3519insG
XM_011532698.2:c.256+3518_256+3519insG	XP_011531000.1:n.256+3518_256+3519insG
NM_001430.5:c.217+3518_217+3519insG MANE Select	NP_001421.2:n.217+3518_217+3519insG