Canonical Allele Identifier: CA10363302

Gene: PDHA1 MAP3K15

Linked Data

• ClinVar Variation Id: 445325
• ClinVar RCV Id: RCV000513956
• dbSNP Id: rs202102403
• ExAC: X:19378962 AAC / A
• gnomAD v2: X-19378962-AAC-A
• gnomAD v3: X-19360844-AAC-A
• gnomAD v4: X-19360844-AAC-A
• MyVariant Identifiers: chrX:g.19378963_19378964del (hg19) ; chrX:g.19360846_19360847del (hg38) ; chrX:g.19360845_19360846del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19360848_19360849del , CM000685.2:g.19360848_19360849del	GRCh38
NC_000023.10:g.19378966_19378967del , CM000685.1:g.19378966_19378967del	GRCh37
NC_000023.9:g.19288887_19288888del	NCBI36
NG_016781.1:g.21956_21957del
NG_021184.1:g.159416_159417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*1195_*1196del (PDHA1)	ENSP00000348062.6:n.*1195_*1196del
ENST00000423505.6:c.*1195_*1196del (PDHA1)	ENSP00000406473.2:n.*1195_*1196del
ENST00000696704.1:c.*1700_*1701del (PDHA1)	ENSP00000512823.1:n.*1700_*1701del
ENST00000696705.1:c.*1823_*1824del (PDHA1)	ENSP00000512824.1:n.*1823_*1824del
ENST00000338883.9:c.3858-13_3858-12del (MAP3K15) MANE Select	ENSP00000345629.4:n.3858-13_3858-12del
ENST00000422285.7:c.*1195_*1196del (PDHA1) MANE Select	ENSP00000394382.2:n.*1195_*1196del
ENST00000338883.8:c.3858-13_3858-12del (MAP3K15)	ENSP00000345629.4:n.3858-13_3858-12del
ENST00000359173.7:c.3186-13_3186-12del (MAP3K15)
ENST00000379806.9:c.*1195_*1196del (PDHA1)	ENSP00000369134.5:n.*1195_*1196del
ENST00000422285.6:c.*1195_*1196del (PDHA1)	ENSP00000394382.2:n.*1195_*1196del
ENST00000470101.1:n.1276-13_1276-12del (MAP3K15)
ENST00000518578.5:n.3920-13_3920-12del (MAP3K15)
ENST00000540249.5:c.*1195_*1196del (PDHA1)	ENSP00000440761.1:n.*1195_*1196del
ENST00000545074.5:c.*1195_*1196del (PDHA1)	ENSP00000438550.1:n.*1195_*1196del
NM_000284.3:c.*1195_*1196del (PDHA1)	NP_000275.1:n.*1195_*1196del
NM_001001671.3:c.3858-13_3858-12del (MAP3K15)	NP_001001671.3:n.3858-13_3858-12del
NM_001173454.1:c.*1195_*1196del (PDHA1)	NP_001166925.1:n.*1195_*1196del
NM_001173455.1:c.*1195_*1196del (PDHA1)	NP_001166926.1:n.*1195_*1196del
NM_001173456.1:c.*1195_*1196del (PDHA1)	NP_001166927.1:n.*1195_*1196del
XM_011545507.1:c.3513-13_3513-12del (MAP3K15)	XP_011543809.1:n.3513-13_3513-12del
XM_011545508.1:c.3426-13_3426-12del (MAP3K15)	XP_011543810.1:n.3426-13_3426-12del
XM_011545509.1:c.2823-13_2823-12del (MAP3K15)	XP_011543811.1:n.2823-13_2823-12del
XM_011545510.1:c.2532-13_2532-12del (MAP3K15)	XP_011543812.1:n.2532-13_2532-12del
XM_011545511.1:c.2163-13_2163-12del (MAP3K15)	XP_011543813.1:n.2163-13_2163-12del
XM_011545531.1:c.*1195_*1196del (PDHA1)	XP_011543833.1:n.*1195_*1196del
XM_011545532.1:c.*1195_*1196del (PDHA1)	XP_011543834.1:n.*1195_*1196del
XM_011545507.3:c.3513-13_3513-12del (MAP3K15)	XP_011543809.3:n.3513-13_3513-12del
XM_011545508.3:c.3426-13_3426-12del (MAP3K15)	XP_011543810.3:n.3426-13_3426-12del
XM_011545510.2:c.2532-13_2532-12del (MAP3K15)	XP_011543812.1:n.2532-13_2532-12del
XM_011545511.2:c.2163-13_2163-12del (MAP3K15)	XP_011543813.1:n.2163-13_2163-12del
NM_000284.4:c.*1195_*1196del (PDHA1) MANE Select	NP_000275.1:n.*1195_*1196del
NM_001001671.4:c.3858-13_3858-12del (MAP3K15) MANE Select	NP_001001671.3:n.3858-13_3858-12del
NM_001173454.2:c.*1195_*1196del (PDHA1)	NP_001166925.1:n.*1195_*1196del
NM_001173455.2:c.*1195_*1196del (PDHA1)	NP_001166926.1:n.*1195_*1196del
NM_001173456.2:c.*1195_*1196del (PDHA1)	NP_001166927.1:n.*1195_*1196del