Canonical Allele Identifier: CA675844112

Gene: PDHX APIP

Linked Data

• dbSNP Id: rs1234545060
• MyVariant Identifiers: chr11:g.34938010_34938011insC (hg19) ; chr11:g.34916463_34916464insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916464dup , CM000673.2:g.34916464dup	GRCh38
NC_000011.9:g.34938011dup , CM000673.1:g.34938011dup	GRCh37
NC_000011.8:g.34894587dup	NCBI36
NG_013368.1:g.5335dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-43dup (PDHX)	ENSP00000389404.3:n.-43dup
ENST00000395787.3:c.-180dup (APIP)	ENSP00000379133.3:n.-180dup
ENST00000448838.7:c.93dup (PDHX)	ENSP00000389404.2:p.Gly32ArgfsTer4
ENST00000533550.5:c.-21+526dup (PDHX)	ENSP00000431281.1:n.-21+526dup
NM_001135024.1:c.93dup (PDHX)	NP_001128496.1:p.Gly32ArgfsTer4
NM_001166158.1:c.-192dup (PDHX)	NP_001159630.1:n.-192dup
NM_003477.2:c.-192dup (PDHX)	NP_003468.2:n.-192dup
XM_011520390.1:c.-21+526dup (PDHX)	XP_011518692.1:n.-21+526dup
NM_001135024.2:c.-43dup (PDHX)	NP_001128496.2:n.-43dup