Canonical Allele Identifier: CA2418225960
Gene: PDHA1 HGNC NCBI
MAP3K15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19360101_19360114delinsTTTTAAAATAAGAC , CM000685.2:g.19360101_19360114delinsTTTTAAAATAAGAC GRCh38
NC_000023.10:g.19378219_19378232delinsTTTTAAAATAAGAC , CM000685.1:g.19378219_19378232delinsTTTTAAAATAAGAC GRCh37
NC_000023.9:g.19288140_19288153delinsTTTTAAAATAAGAC NCBI36
NG_016781.1:g.21209_21222delinsTTTTAAAATAAGAC
NG_021184.1:g.160148_160161delinsGTCTTATTTTAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) ENSP00000348062.6:n.*448_*461delinsTTTTAAAATAAGAC
ENST00000423505.6:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) ENSP00000406473.2:n.*448_*461delinsTTTTAAAATAAGAC
ENST00000696704.1:c.*953_*966delinsTTTTAAAATAAGAC (PDHA1) ENSP00000512823.1:n.*953_*966delinsTTTTAAAATAAGAC
ENST00000696705.1:c.*1076_*1089delinsTTTTAAAATAAGAC (PDHA1) ENSP00000512824.1:n.*1076_*1089delinsTTTTAAAATAAGAC
ENST00000338883.9:c.*635_*648delinsGTCTTATTTTAAAA (MAP3K15) MANE Select ENSP00000345629.4:n.*635_*648delinsGTCTTATTTTAAAA
ENST00000422285.7:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) MANE Select ENSP00000394382.2:n.*448_*461delinsTTTTAAAATAAGAC
ENST00000359173.7:c.3905_3918delinsGTCTTATTTTAAAA (MAP3K15)
ENST00000379806.9:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) ENSP00000369134.5:n.*448_*461delinsTTTTAAAATAAGAC
ENST00000422285.6:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) ENSP00000394382.2:n.*448_*461delinsTTTTAAAATAAGAC
ENST00000470101.1:n.1995_2008delinsGTCTTATTTTAAAA (MAP3K15)
ENST00000518578.5:n.4639_4652delinsGTCTTATTTTAAAA (MAP3K15)
ENST00000540249.5:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) ENSP00000440761.1:n.*448_*461delinsTTTTAAAATAAGAC
ENST00000545074.5:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) ENSP00000438550.1:n.*448_*461delinsTTTTAAAATAAGAC
NM_000284.3:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) NP_000275.1:n.*448_*461delinsTTTTAAAATAAGAC
NM_001001671.3:c.4577_4590delinsGTCTTATTTTAAAA (MAP3K15) NP_001001671.3:n.4577_4590delinsGTCTTATTTTAAAA
NM_001173454.1:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) NP_001166925.1:n.*448_*461delinsTTTTAAAATAAGAC
NM_001173455.1:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) NP_001166926.1:n.*448_*461delinsTTTTAAAATAAGAC
NM_001173456.1:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) NP_001166927.1:n.*448_*461delinsTTTTAAAATAAGAC
XM_011545507.1:c.*635_*648delinsGTCTTATTTTAAAA (MAP3K15) XP_011543809.1:n.*635_*648delinsGTCTTATTTTAAAA
XM_011545508.1:c.*635_*648delinsGTCTTATTTTAAAA (MAP3K15) XP_011543810.1:n.*635_*648delinsGTCTTATTTTAAAA
XM_011545509.1:c.*635_*648delinsGTCTTATTTTAAAA (MAP3K15) XP_011543811.1:n.*635_*648delinsGTCTTATTTTAAAA
XM_011545510.1:c.*635_*648delinsGTCTTATTTTAAAA (MAP3K15) XP_011543812.1:n.*635_*648delinsGTCTTATTTTAAAA
XM_011545511.1:c.*635_*648delinsGTCTTATTTTAAAA (MAP3K15) XP_011543813.1:n.*635_*648delinsGTCTTATTTTAAAA
XM_011545531.1:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) XP_011543833.1:n.*448_*461delinsTTTTAAAATAAGAC
XM_011545532.1:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) XP_011543834.1:n.*448_*461delinsTTTTAAAATAAGAC
XM_011545507.3:c.*635_*648delinsGTCTTATTTTAAAA (MAP3K15) XP_011543809.3:n.*635_*648delinsGTCTTATTTTAAAA
XM_011545508.3:c.*635_*648delinsGTCTTATTTTAAAA (MAP3K15) XP_011543810.3:n.*635_*648delinsGTCTTATTTTAAAA
XM_011545510.2:c.*635_*648delinsGTCTTATTTTAAAA (MAP3K15) XP_011543812.1:n.*635_*648delinsGTCTTATTTTAAAA
XM_011545511.2:c.*635_*648delinsGTCTTATTTTAAAA (MAP3K15) XP_011543813.1:n.*635_*648delinsGTCTTATTTTAAAA
NM_000284.4:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) MANE Select NP_000275.1:n.*448_*461delinsTTTTAAAATAAGAC
NM_001001671.4:c.*635_*648delinsGTCTTATTTTAAAA (MAP3K15) MANE Select NP_001001671.3:n.*635_*648delinsGTCTTATTTTAAAA
NM_001173454.2:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) NP_001166925.1:n.*448_*461delinsTTTTAAAATAAGAC
NM_001173455.2:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) NP_001166926.1:n.*448_*461delinsTTTTAAAATAAGAC
NM_001173456.2:c.*448_*461delinsTTTTAAAATAAGAC (PDHA1) NP_001166927.1:n.*448_*461delinsTTTTAAAATAAGAC