Canonical Allele Identifier: CA2495266807

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350237_46350238delinsCA , CM000664.2:g.46350237_46350238delinsCA	GRCh38
NC_000002.11:g.46577376_46577377delinsCA , CM000664.1:g.46577376_46577377delinsCA	GRCh37
NC_000002.10:g.46430880_46430881delinsCA	NCBI36
NG_016000.1:g.57836_57837delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.217+3174_217+3175delinsCA MANE Select	ENSP00000263734.3:n.217+3174_217+3175delinsCA
ENST00000263734.4:c.217+3174_217+3175delinsCA	ENSP00000263734.3:n.217+3174_217+3175delinsCA
ENST00000449347.5:c.217+3174_217+3175delinsCA	ENSP00000406137.1:n.217+3174_217+3175delinsCA
ENST00000475822.1:n.408+3174_408+3175delinsCA
NM_001430.4:c.217+3174_217+3175delinsCA	NP_001421.2:n.217+3174_217+3175delinsCA
XM_011532698.1:c.256+3174_256+3175delinsCA	XP_011531000.1:n.256+3174_256+3175delinsCA
XM_011532698.2:c.256+3174_256+3175delinsCA	XP_011531000.1:n.256+3174_256+3175delinsCA
NM_001430.5:c.217+3174_217+3175delinsCA MANE Select	NP_001421.2:n.217+3174_217+3175delinsCA