LDH info

Canonical Allele Identifier: CA769367789
Gene: EPAS1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1159681778

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350495_46350497del , CM000664.2:g.46350495_46350497del GRCh38
NC_000002.11:g.46577634_46577636del , CM000664.1:g.46577634_46577636del GRCh37
NC_000002.10:g.46431138_46431140del NCBI36
NG_016000.1:g.58094_58096del

Transcript Alleles

HGVS Amino-acid change
NM_001430.4:c.217+3432_217+3434del VV NP_001421.2:p.=
XM_011532698.1:c.256+3432_256+3434del XP_011531000.1:p.=
XM_011532698.2:c.256+3432_256+3434del XP_011531000.1:p.=
NM_001430.5:c.217+3432_217+3434del VV MANE Preferred NP_001421.2:p.=
ENST00000263734.4:c.217+3432_217+3434del ENSP00000263734.3:p.=
ENST00000449347.5:c.217+3432_217+3434del ENSP00000406137.1:p.=
ENST00000475822.1:n.408+3432_408+3434del