Canonical Allele Identifier: CA2495256733

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46329166_46329167delinsAC , CM000664.2:g.46329166_46329167delinsAC	GRCh38
NC_000002.11:g.46556305_46556306delinsAC , CM000664.1:g.46556305_46556306delinsAC	GRCh37
NC_000002.10:g.46409809_46409810delinsAC	NCBI36
NG_016000.1:g.36765_36766delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-17707_27-17706delinsAC MANE Select	ENSP00000263734.3:n.27-17707_27-17706delinsAC
ENST00000263734.4:c.27-17707_27-17706delinsAC	ENSP00000263734.3:n.27-17707_27-17706delinsAC
ENST00000449347.5:c.27-17707_27-17706delinsAC	ENSP00000406137.1:n.27-17707_27-17706delinsAC
ENST00000460015.1:n.433-17707_433-17706delinsAC
ENST00000467888.5:n.175-17707_175-17706delinsAC
NM_001430.4:c.27-17707_27-17706delinsAC	NP_001421.2:n.27-17707_27-17706delinsAC
XM_011532698.1:c.65+3290_65+3291delinsAC	XP_011531000.1:n.65+3290_65+3291delinsAC
XR_940055.1:n.2355+6617_2355+6618delinsGT
XM_011532698.2:c.65+3290_65+3291delinsAC	XP_011531000.1:n.65+3290_65+3291delinsAC
NM_001430.5:c.27-17707_27-17706delinsAC MANE Select	NP_001421.2:n.27-17707_27-17706delinsAC