Canonical Allele Identifier: CA2495266886

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350410_46350411delinsAT , CM000664.2:g.46350410_46350411delinsAT	GRCh38
NC_000002.11:g.46577549_46577550delinsAT , CM000664.1:g.46577549_46577550delinsAT	GRCh37
NC_000002.10:g.46431053_46431054delinsAT	NCBI36
NG_016000.1:g.58009_58010delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.217+3347_217+3348delinsAT MANE Select	ENSP00000263734.3:n.217+3347_217+3348deli...
ENST00000263734.4:c.217+3347_217+3348delinsAT	ENSP00000263734.3:n.217+3347_217+3348deli...
ENST00000449347.5:c.217+3347_217+3348delinsAT	ENSP00000406137.1:n.217+3347_217+3348deli...
ENST00000475822.1:n.408+3347_408+3348delinsAT
NM_001430.4:c.217+3347_217+3348delinsAT	NP_001421.2:n.217+3347_217+3348delinsAT
XM_011532698.1:c.256+3347_256+3348delinsAT	XP_011531000.1:n.256+3347_256+3348delinsA...
XM_011532698.2:c.256+3347_256+3348delinsAT	XP_011531000.1:n.256+3347_256+3348delinsA...
NM_001430.5:c.217+3347_217+3348delinsAT MANE Select	NP_001421.2:n.217+3347_217+3348delinsAT