Canonical Allele Identifier: CA2495257397

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46330500_46330503delinsCAGA , CM000664.2:g.46330500_46330503delinsCAGA	GRCh38
NC_000002.11:g.46557639_46557642delinsCAGA , CM000664.1:g.46557639_46557642delinsCAGA	GRCh37
NC_000002.10:g.46411143_46411146delinsCAGA	NCBI36
NG_016000.1:g.38099_38102delinsCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-16373_27-16370delinsCAGA MANE Select	ENSP00000263734.3:n.27-16373_27-16370delinsCAGA
ENST00000263734.4:c.27-16373_27-16370delinsCAGA	ENSP00000263734.3:n.27-16373_27-16370delinsCAGA
ENST00000449347.5:c.27-16373_27-16370delinsCAGA	ENSP00000406137.1:n.27-16373_27-16370delinsCAGA
ENST00000460015.1:n.433-16373_433-16370delinsCAGA
ENST00000467888.5:n.175-16373_175-16370delinsCAGA
NM_001430.4:c.27-16373_27-16370delinsCAGA	NP_001421.2:n.27-16373_27-16370delinsCAGA
XM_011532698.1:c.65+4624_65+4627delinsCAGA	XP_011531000.1:n.65+4624_65+4627delinsCAGA
XR_940055.1:n.2355+5281_2355+5284delinsTCTG
XM_011532698.2:c.65+4624_65+4627delinsCAGA	XP_011531000.1:n.65+4624_65+4627delinsCAGA
NM_001430.5:c.27-16373_27-16370delinsCAGA MANE Select	NP_001421.2:n.27-16373_27-16370delinsCAGA