Canonical Allele Identifier: CA2695231651

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358915_19358919dup , CM000685.2:g.19358915_19358919dup	GRCh38
NC_000023.10:g.19377033_19377037dup , CM000685.1:g.19377033_19377037dup	GRCh37
NC_000023.9:g.19286954_19286958dup	NCBI36
NG_016781.1:g.20023_20027dup
NG_021184.1:g.161343_161347dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.921-1_924dup
ENST00000379805.4:c.*592-1_*595dup
ENST00000417819.6:c.984-1_987dup
ENST00000423505.6:c.1014-1_1017dup
ENST00000481733.2:n.695-1_698dup
ENST00000696704.1:c.*232-1_*235dup
ENST00000696705.1:c.*355-1_*358dup
ENST00000422285.7:c.900-1_903dup
ENST00000379804.1:c.57-1_60dup
ENST00000379806.9:c.1014-1_1017dup
ENST00000422285.6:c.900-1_903dup
ENST00000478795.1:n.339-1_342dup
ENST00000481733.1:n.328-1_331dup
ENST00000540249.5:c.807-1_810dup
ENST00000545074.5:c.921-1_924dup
NM_000284.3:c.900-1_903dup
NM_001173454.1:c.1014-1_1017dup
NM_001173455.1:c.921-1_924dup
NM_001173456.1:c.807-1_810dup
XM_011545531.1:c.1035-1_1038dup
XM_011545532.1:c.942-1_945dup
XM_017029574.2:c.921-1_924dup
NM_000284.4:c.900-1_903dup
NM_001173454.2:c.1014-1_1017dup
NM_001173455.2:c.921-1_924dup
NM_001173456.2:c.807-1_810dup