Canonical Allele Identifier: CA2791026743

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34916436del , CM000673.2:g.34916436del GRCh38
NC_000011.9:g.34937983del , CM000673.1:g.34937983del GRCh37
NC_000011.8:g.34894559del NCBI36
NG_013368.1:g.5307del

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.-71del (PDHX) ENSP00000389404.3:n.-71del
ENST00000395787.3:c.-151del (APIP) ENSP00000379133.3:n.-151del
ENST00000448838.7:c.65del (PDHX) ENSP00000389404.2:p.Gly22ValfsTer24
ENST00000533550.5:c.-21+498del (PDHX) ENSP00000431281.1:n.-21+498del
NM_001135024.1:c.65del (PDHX) NP_001128496.1:p.Gly22ValfsTer24
NM_001166158.1:c.-220del (PDHX) NP_001159630.1:n.-220del
NM_003477.2:c.-220del (PDHX) NP_003468.2:n.-220del
XM_011520390.1:c.-21+498del (PDHX) XP_011518692.1:n.-21+498del