Canonical Allele Identifier: CA2658897086

Gene: EPAS1

Linked Data

• gnomAD v4: 2-46385556-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46385557del , CM000664.2:g.46385557del	GRCh38
NC_000002.11:g.46612696del , CM000664.1:g.46612696del	GRCh37
NC_000002.10:g.46466200del	NCBI36
NG_016000.1:g.93156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.*897del MANE Select	ENSP00000263734.3:n.*897del
ENST00000263734.4:c.*897del	ENSP00000263734.3:n.*897del
ENST00000466465.5:n.2483del
NM_001430.4:c.*897del	NP_001421.2:n.*897del
XM_011532698.1:c.*897del	XP_011531000.1:n.*897del
XM_011532698.2:c.*897del	XP_011531000.1:n.*897del
NM_001430.5:c.*897del MANE Select	NP_001421.2:n.*897del