Canonical Allele Identifier: CA2495266813

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350250_46350261delinsACATTCATTATT , CM000664.2:g.46350250_46350261delinsACATTCATTATT	GRCh38
NC_000002.11:g.46577389_46577400delinsACATTCATTATT , CM000664.1:g.46577389_46577400delinsACATTCATTATT	GRCh37
NC_000002.10:g.46430893_46430904delinsACATTCATTATT	NCBI36
NG_016000.1:g.57849_57860delinsACATTCATTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3187_217+3198delinsACATTCATTATT MANE Select	ENSP00000263734.3:n.217+3187_217+3198delinsACATTCATTATT
ENST00000263734.4:c.217+3187_217+3198delinsACATTCATTATT	ENSP00000263734.3:n.217+3187_217+3198delinsACATTCATTATT
ENST00000449347.5:c.217+3187_217+3198delinsACATTCATTATT	ENSP00000406137.1:n.217+3187_217+3198delinsACATTCATTATT
ENST00000475822.1:n.408+3187_408+3198delinsACATTCATTATT
NM_001430.4:c.217+3187_217+3198delinsACATTCATTATT	NP_001421.2:n.217+3187_217+3198delinsACATTCATTATT
XM_011532698.1:c.256+3187_256+3198delinsACATTCATTATT	XP_011531000.1:n.256+3187_256+3198delinsACATTCATTATT
XM_011532698.2:c.256+3187_256+3198delinsACATTCATTATT	XP_011531000.1:n.256+3187_256+3198delinsACATTCATTATT
NM_001430.5:c.217+3187_217+3198delinsACATTCATTATT MANE Select	NP_001421.2:n.217+3187_217+3198delinsACATTCATTATT