Canonical Allele Identifier: CA2418225712

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063252331
• gnomAD v4: X-19359753-TTCTTGGAAACTTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359754_19359767del , CM000685.2:g.19359754_19359767del	GRCh38
NC_000023.10:g.19377872_19377885del , CM000685.1:g.19377872_19377885del	GRCh37
NC_000023.9:g.19287793_19287806del	NCBI36
NG_016781.1:g.20862_20875del
NG_021184.1:g.160495_160508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*101_*114del	ENSP00000348062.6:n.*101_*114del
ENST00000379805.4:c.*966_*979del	ENSP00000369133.3:n.*966_*979del
ENST00000417819.6:c.*101_*114del	ENSP00000404616.2:n.*101_*114del
ENST00000423505.6:c.*101_*114del	ENSP00000406473.2:n.*101_*114del
ENST00000481733.2:n.1069_1082del
ENST00000696704.1:c.*606_*619del	ENSP00000512823.1:n.*606_*619del
ENST00000696705.1:c.*729_*742del	ENSP00000512824.1:n.*729_*742del
ENST00000422285.7:c.*101_*114del MANE Select	ENSP00000394382.2:n.*101_*114del
ENST00000379804.1:c.*101_*114del	ENSP00000369132.1:n.*101_*114del
ENST00000379806.9:c.*101_*114del	ENSP00000369134.5:n.*101_*114del
ENST00000422285.6:c.*101_*114del	ENSP00000394382.2:n.*101_*114del
ENST00000478795.1:n.713_726del
ENST00000540249.5:c.*101_*114del	ENSP00000440761.1:n.*101_*114del
ENST00000545074.5:c.*101_*114del	ENSP00000438550.1:n.*101_*114del
NM_000284.3:c.*101_*114del	NP_000275.1:n.*101_*114del
NM_001173454.1:c.*101_*114del	NP_001166925.1:n.*101_*114del
NM_001173455.1:c.*101_*114del	NP_001166926.1:n.*101_*114del
NM_001173456.1:c.*101_*114del	NP_001166927.1:n.*101_*114del
XM_011545531.1:c.*101_*114del	XP_011543833.1:n.*101_*114del
XM_011545532.1:c.*101_*114del	XP_011543834.1:n.*101_*114del
XM_017029574.2:c.*101_*114del	XP_016885063.1:n.*101_*114del
NM_000284.4:c.*101_*114del MANE Select	NP_000275.1:n.*101_*114del
NM_001173454.2:c.*101_*114del	NP_001166925.1:n.*101_*114del
NM_001173455.2:c.*101_*114del	NP_001166926.1:n.*101_*114del
NM_001173456.2:c.*101_*114del	NP_001166927.1:n.*101_*114del