Canonical Allele Identifier: CA640522799

Gene: PDHA1 MAP3K15

Linked Data

• dbSNP Id: rs1325189806
• gnomAD v2: X-19378246-CCAATTTTGTAATCATTT-C
• gnomAD v3: X-19360128-CCAATTTTGTAATCATTT-C
• gnomAD v4: X-19360128-CCAATTTTGTAATCATTT-C
• MyVariant Identifiers: chrX:g.19378247_19378263del (hg19) ; chrX:g.19360129_19360145del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19360132_19360148del , CM000685.2:g.19360132_19360148del	GRCh38
NC_000023.10:g.19378250_19378266del , CM000685.1:g.19378250_19378266del	GRCh37
NC_000023.9:g.19288171_19288187del	NCBI36
NG_016781.1:g.21240_21256del
NG_021184.1:g.160117_160133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*479_*495del (PDHA1)	ENSP00000348062.6:n.*479_*495del
ENST00000423505.6:c.*479_*495del (PDHA1)	ENSP00000406473.2:n.*479_*495del
ENST00000696704.1:c.*984_*1000del (PDHA1)	ENSP00000512823.1:n.*984_*1000del
ENST00000696705.1:c.*1107_*1123del (PDHA1)	ENSP00000512824.1:n.*1107_*1123del
ENST00000338883.9:c.*604_*620del (MAP3K15) MANE Select	ENSP00000345629.4:n.*604_*620del
ENST00000422285.7:c.*479_*495del (PDHA1) MANE Select	ENSP00000394382.2:n.*479_*495del
ENST00000359173.7:c.3874_3890del (MAP3K15)
ENST00000379806.9:c.*479_*495del (PDHA1)	ENSP00000369134.5:n.*479_*495del
ENST00000422285.6:c.*479_*495del (PDHA1)	ENSP00000394382.2:n.*479_*495del
ENST00000470101.1:n.1964_1980del (MAP3K15)
ENST00000518578.5:n.4608_4624del (MAP3K15)
ENST00000540249.5:c.*479_*495del (PDHA1)	ENSP00000440761.1:n.*479_*495del
ENST00000545074.5:c.*479_*495del (PDHA1)	ENSP00000438550.1:n.*479_*495del
NM_000284.3:c.*479_*495del (PDHA1)	NP_000275.1:n.*479_*495del
NM_001001671.3:c.4546_4562del (MAP3K15)	NP_001001671.3:n.4546_4562del
NM_001173454.1:c.*479_*495del (PDHA1)	NP_001166925.1:n.*479_*495del
NM_001173455.1:c.*479_*495del (PDHA1)	NP_001166926.1:n.*479_*495del
NM_001173456.1:c.*479_*495del (PDHA1)	NP_001166927.1:n.*479_*495del
XM_011545507.1:c.*604_*620del (MAP3K15)	XP_011543809.1:n.*604_*620del
XM_011545508.1:c.*604_*620del (MAP3K15)	XP_011543810.1:n.*604_*620del
XM_011545509.1:c.*604_*620del (MAP3K15)	XP_011543811.1:n.*604_*620del
XM_011545510.1:c.*604_*620del (MAP3K15)	XP_011543812.1:n.*604_*620del
XM_011545511.1:c.*604_*620del (MAP3K15)	XP_011543813.1:n.*604_*620del
XM_011545531.1:c.*479_*495del (PDHA1)	XP_011543833.1:n.*479_*495del
XM_011545532.1:c.*479_*495del (PDHA1)	XP_011543834.1:n.*479_*495del
XM_011545507.3:c.*604_*620del (MAP3K15)	XP_011543809.3:n.*604_*620del
XM_011545508.3:c.*604_*620del (MAP3K15)	XP_011543810.3:n.*604_*620del
XM_011545510.2:c.*604_*620del (MAP3K15)	XP_011543812.1:n.*604_*620del
XM_011545511.2:c.*604_*620del (MAP3K15)	XP_011543813.1:n.*604_*620del
NM_000284.4:c.*479_*495del (PDHA1) MANE Select	NP_000275.1:n.*479_*495del
NM_001001671.4:c.*604_*620del (MAP3K15) MANE Select	NP_001001671.3:n.*604_*620del
NM_001173454.2:c.*479_*495del (PDHA1)	NP_001166925.1:n.*479_*495del
NM_001173455.2:c.*479_*495del (PDHA1)	NP_001166926.1:n.*479_*495del
NM_001173456.2:c.*479_*495del (PDHA1)	NP_001166927.1:n.*479_*495del