Canonical Allele Identifier: CA2495245846

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46306176_46306178delinsGTA , CM000664.2:g.46306176_46306178delinsGTA	GRCh38
NC_000002.11:g.46533315_46533317delinsGTA , CM000664.1:g.46533315_46533317delinsGTA	GRCh37
NC_000002.10:g.46386819_46386821delinsGTA	NCBI36
NG_016000.1:g.13775_13777delinsGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.26+8239_26+8241delinsGTA MANE Select	ENSP00000263734.3:n.26+8239_26+8241delinsGTA
ENST00000263734.4:c.26+8239_26+8241delinsGTA	ENSP00000263734.3:n.26+8239_26+8241delinsGTA
ENST00000449347.5:c.26+8239_26+8241delinsGTA	ENSP00000406137.1:n.26+8239_26+8241delinsGTA
ENST00000460015.1:n.432+12078_432+12080delinsGTA
ENST00000467888.5:n.174+8239_174+8241delinsGTA
NM_001430.4:c.26+8239_26+8241delinsGTA	NP_001421.2:n.26+8239_26+8241delinsGTA
XR_940055.1:n.2501+7915_2501+7917delinsTAC
NM_001430.5:c.26+8239_26+8241delinsGTA MANE Select	NP_001421.2:n.26+8239_26+8241delinsGTA