Canonical Allele Identifier: CA2495256754

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46329203_46329205delinsAGC , CM000664.2:g.46329203_46329205delinsAGC	GRCh38
NC_000002.11:g.46556342_46556344delinsAGC , CM000664.1:g.46556342_46556344delinsAGC	GRCh37
NC_000002.10:g.46409846_46409848delinsAGC	NCBI36
NG_016000.1:g.36802_36804delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-17670_27-17668delinsAGC MANE Select	ENSP00000263734.3:n.27-17670_27-17668delinsAGC
ENST00000263734.4:c.27-17670_27-17668delinsAGC	ENSP00000263734.3:n.27-17670_27-17668delinsAGC
ENST00000449347.5:c.27-17670_27-17668delinsAGC	ENSP00000406137.1:n.27-17670_27-17668delinsAGC
ENST00000460015.1:n.433-17670_433-17668delinsAGC
ENST00000467888.5:n.175-17670_175-17668delinsAGC
NM_001430.4:c.27-17670_27-17668delinsAGC	NP_001421.2:n.27-17670_27-17668delinsAGC
XM_011532698.1:c.65+3327_65+3329delinsAGC	XP_011531000.1:n.65+3327_65+3329delinsAGC
XR_940055.1:n.2355+6579_2355+6581delinsGCT
XM_011532698.2:c.65+3327_65+3329delinsAGC	XP_011531000.1:n.65+3327_65+3329delinsAGC
NM_001430.5:c.27-17670_27-17668delinsAGC MANE Select	NP_001421.2:n.27-17670_27-17668delinsAGC