Canonical Allele Identifier: CA916527371

Gene: EPAS1

Linked Data

• dbSNP Id: rs1572633003

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350683del , CM000664.2:g.46350683del	GRCh38
NC_000002.11:g.46577822del , CM000664.1:g.46577822del	GRCh37
NC_000002.10:g.46431326del	NCBI36
NG_016000.1:g.58282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3620del MANE Select	ENSP00000263734.3:n.217+3620del
ENST00000263734.4:c.217+3620del	ENSP00000263734.3:n.217+3620del
ENST00000449347.5:c.217+3620del	ENSP00000406137.1:n.217+3620del
ENST00000475822.1:n.408+3620del
NM_001430.4:c.217+3620del	NP_001421.2:n.217+3620del
XM_011532698.1:c.256+3620del	XP_011531000.1:n.256+3620del
XM_011532698.2:c.256+3620del	XP_011531000.1:n.256+3620del
NM_001430.5:c.217+3620del MANE Select	NP_001421.2:n.217+3620del