Canonical Allele Identifier: CA220475144

Gene: PDHX

Linked Data

• dbSNP Id: rs946156648
• gnomAD v4: 11-34916503-TGGAGGCGGGGCTGGGTTGG-T
• MyVariant Identifiers: chr11:g.34938051_34938069del (hg19) ; chr11:g.34916504_34916522del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916506_34916524del , CM000673.2:g.34916506_34916524del	GRCh38
NC_000011.9:g.34938053_34938071del , CM000673.1:g.34938053_34938071del	GRCh37
NC_000011.8:g.34894629_34894647del	NCBI36
NG_013368.1:g.5377_5395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+20_-21+38del	ENSP00000389404.3:n.-21+20_-21+38del
ENST00000448838.7:c.115+20_115+38del	ENSP00000389404.2:n.115+20_115+38del
ENST00000533550.5:c.-21+568_-21+586del	ENSP00000431281.1:n.-21+568_-21+586del
NM_001135024.1:c.115+20_115+38del	NP_001128496.1:n.115+20_115+38del
NM_001166158.1:c.-150_-132del	NP_001159630.1:n.-150_-132del
NM_003477.2:c.-150_-132del	NP_003468.2:n.-150_-132del
XM_011520390.1:c.-21+568_-21+586del	XP_011518692.1:n.-21+568_-21+586del
NM_001135024.2:c.-21+20_-21+38del	NP_001128496.2:n.-21+20_-21+38del