Canonical Allele Identifier: CA2418225985
Gene: PDHA1 HGNC NCBI
MAP3K15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19360132_19360149delinsTTTTGTAATCATTTCAAA , CM000685.2:g.19360132_19360149delinsTTTTGTAATCATTTCAAA GRCh38
NC_000023.10:g.19378250_19378267delinsTTTTGTAATCATTTCAAA , CM000685.1:g.19378250_19378267delinsTTTTGTAATCATTTCAAA GRCh37
NC_000023.9:g.19288171_19288188delinsTTTTGTAATCATTTCAAA NCBI36
NG_016781.1:g.21240_21257delinsTTTTGTAATCATTTCAAA
NG_021184.1:g.160113_160130delinsTTTGAAATGATTACAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) ENSP00000348062.6:n.*479_*496delinsTTTTGTAATCATTTCAAA
ENST00000423505.6:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) ENSP00000406473.2:n.*479_*496delinsTTTTGTAATCATTTCAAA
ENST00000696704.1:c.*984_*1001delinsTTTTGTAATCATTTCAAA (PDHA1) ENSP00000512823.1:n.*984_*1001delinsTTTTGTAATCATTTCAAA
ENST00000696705.1:c.*1107_*1124delinsTTTTGTAATCATTTCAAA (PDHA1) ENSP00000512824.1:n.*1107_*1124delinsTTTTGTAATCATTTCAAA
ENST00000338883.9:c.*600_*617delinsTTTGAAATGATTACAAAA (MAP3K15) MANE Select ENSP00000345629.4:n.*600_*617delinsTTTGAAATGATTACAAAA
ENST00000422285.7:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) MANE Select ENSP00000394382.2:n.*479_*496delinsTTTTGTAATCATTTCAAA
ENST00000359173.7:c.3870_3887delinsTTTGAAATGATTACAAAA (MAP3K15)
ENST00000379806.9:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) ENSP00000369134.5:n.*479_*496delinsTTTTGTAATCATTTCAAA
ENST00000422285.6:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) ENSP00000394382.2:n.*479_*496delinsTTTTGTAATCATTTCAAA
ENST00000470101.1:n.1960_1977delinsTTTGAAATGATTACAAAA (MAP3K15)
ENST00000518578.5:n.4604_4621delinsTTTGAAATGATTACAAAA (MAP3K15)
ENST00000540249.5:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) ENSP00000440761.1:n.*479_*496delinsTTTTGTAATCATTTCAAA
ENST00000545074.5:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) ENSP00000438550.1:n.*479_*496delinsTTTTGTAATCATTTCAAA
NM_000284.3:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) NP_000275.1:n.*479_*496delinsTTTTGTAATCATTTCAAA
NM_001001671.3:c.4542_4559delinsTTTGAAATGATTACAAAA (MAP3K15) NP_001001671.3:n.4542_4559delinsTTTGAAATGATTACAAAA
NM_001173454.1:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) NP_001166925.1:n.*479_*496delinsTTTTGTAATCATTTCAAA
NM_001173455.1:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) NP_001166926.1:n.*479_*496delinsTTTTGTAATCATTTCAAA
NM_001173456.1:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) NP_001166927.1:n.*479_*496delinsTTTTGTAATCATTTCAAA
XM_011545507.1:c.*600_*617delinsTTTGAAATGATTACAAAA (MAP3K15) XP_011543809.1:n.*600_*617delinsTTTGAAATGATTACAAAA
XM_011545508.1:c.*600_*617delinsTTTGAAATGATTACAAAA (MAP3K15) XP_011543810.1:n.*600_*617delinsTTTGAAATGATTACAAAA
XM_011545509.1:c.*600_*617delinsTTTGAAATGATTACAAAA (MAP3K15) XP_011543811.1:n.*600_*617delinsTTTGAAATGATTACAAAA
XM_011545510.1:c.*600_*617delinsTTTGAAATGATTACAAAA (MAP3K15) XP_011543812.1:n.*600_*617delinsTTTGAAATGATTACAAAA
XM_011545511.1:c.*600_*617delinsTTTGAAATGATTACAAAA (MAP3K15) XP_011543813.1:n.*600_*617delinsTTTGAAATGATTACAAAA
XM_011545531.1:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) XP_011543833.1:n.*479_*496delinsTTTTGTAATCATTTCAAA
XM_011545532.1:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) XP_011543834.1:n.*479_*496delinsTTTTGTAATCATTTCAAA
XM_011545507.3:c.*600_*617delinsTTTGAAATGATTACAAAA (MAP3K15) XP_011543809.3:n.*600_*617delinsTTTGAAATGATTACAAAA
XM_011545508.3:c.*600_*617delinsTTTGAAATGATTACAAAA (MAP3K15) XP_011543810.3:n.*600_*617delinsTTTGAAATGATTACAAAA
XM_011545510.2:c.*600_*617delinsTTTGAAATGATTACAAAA (MAP3K15) XP_011543812.1:n.*600_*617delinsTTTGAAATGATTACAAAA
XM_011545511.2:c.*600_*617delinsTTTGAAATGATTACAAAA (MAP3K15) XP_011543813.1:n.*600_*617delinsTTTGAAATGATTACAAAA
NM_000284.4:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) MANE Select NP_000275.1:n.*479_*496delinsTTTTGTAATCATTTCAAA
NM_001001671.4:c.*600_*617delinsTTTGAAATGATTACAAAA (MAP3K15) MANE Select NP_001001671.3:n.*600_*617delinsTTTGAAATGATTACAAAA
NM_001173454.2:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) NP_001166925.1:n.*479_*496delinsTTTTGTAATCATTTCAAA
NM_001173455.2:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) NP_001166926.1:n.*479_*496delinsTTTTGTAATCATTTCAAA
NM_001173456.2:c.*479_*496delinsTTTTGTAATCATTTCAAA (PDHA1) NP_001166927.1:n.*479_*496delinsTTTTGTAATCATTTCAAA