Canonical Allele Identifier: CA327031939

Gene: PDHA1 MAP3K15

Linked Data

• dbSNP Id: rs201758797
• gnomAD v2: X-19378219-TTTTAAAATAAGAC-T
• gnomAD v3: X-19360101-TTTTAAAATAAGAC-T
• gnomAD v4: X-19360101-TTTTAAAATAAGAC-T
• MyVariant Identifiers: chrX:g.19378220_19378232del (hg19) ; chrX:g.19378223_19378249delinsTGTAATCATTCCAA (hg19) ; chrX:g.19360102_19360114del (hg38) ; chrX:g.19360105_19360131delinsTGTAATCATTCCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19360105_19360117del , CM000685.2:g.19360105_19360117del	GRCh38
NC_000023.10:g.19378223_19378235del , CM000685.1:g.19378223_19378235del	GRCh37
NC_000023.9:g.19288144_19288156del	NCBI36
NG_016781.1:g.21213_21225del
NG_021184.1:g.160148_160160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*452_*464del (PDHA1)	ENSP00000348062.6:n.*452_*464del
ENST00000423505.6:c.*452_*464del (PDHA1)	ENSP00000406473.2:n.*452_*464del
ENST00000696704.1:c.*957_*969del (PDHA1)	ENSP00000512823.1:n.*957_*969del
ENST00000696705.1:c.*1080_*1092del (PDHA1)	ENSP00000512824.1:n.*1080_*1092del
ENST00000338883.9:c.*635_*647del (MAP3K15) MANE Select	ENSP00000345629.4:n.*635_*647del
ENST00000422285.7:c.*452_*464del (PDHA1) MANE Select	ENSP00000394382.2:n.*452_*464del
ENST00000359173.7:c.3905_3917del (MAP3K15)
ENST00000379806.9:c.*452_*464del (PDHA1)	ENSP00000369134.5:n.*452_*464del
ENST00000422285.6:c.*452_*464del (PDHA1)	ENSP00000394382.2:n.*452_*464del
ENST00000470101.1:n.1995_2007del (MAP3K15)
ENST00000518578.5:n.4639_4651del (MAP3K15)
ENST00000540249.5:c.*452_*464del (PDHA1)	ENSP00000440761.1:n.*452_*464del
ENST00000545074.5:c.*452_*464del (PDHA1)	ENSP00000438550.1:n.*452_*464del
NM_000284.3:c.*452_*464del (PDHA1)	NP_000275.1:n.*452_*464del
NM_001001671.3:c.4577_4589del (MAP3K15)	NP_001001671.3:n.4577_4589del
NM_001173454.1:c.*452_*464del (PDHA1)	NP_001166925.1:n.*452_*464del
NM_001173455.1:c.*452_*464del (PDHA1)	NP_001166926.1:n.*452_*464del
NM_001173456.1:c.*452_*464del (PDHA1)	NP_001166927.1:n.*452_*464del
XM_011545507.1:c.*635_*647del (MAP3K15)	XP_011543809.1:n.*635_*647del
XM_011545508.1:c.*635_*647del (MAP3K15)	XP_011543810.1:n.*635_*647del
XM_011545509.1:c.*635_*647del (MAP3K15)	XP_011543811.1:n.*635_*647del
XM_011545510.1:c.*635_*647del (MAP3K15)	XP_011543812.1:n.*635_*647del
XM_011545511.1:c.*635_*647del (MAP3K15)	XP_011543813.1:n.*635_*647del
XM_011545531.1:c.*452_*464del (PDHA1)	XP_011543833.1:n.*452_*464del
XM_011545532.1:c.*452_*464del (PDHA1)	XP_011543834.1:n.*452_*464del
XM_011545507.3:c.*635_*647del (MAP3K15)	XP_011543809.3:n.*635_*647del
XM_011545508.3:c.*635_*647del (MAP3K15)	XP_011543810.3:n.*635_*647del
XM_011545510.2:c.*635_*647del (MAP3K15)	XP_011543812.1:n.*635_*647del
XM_011545511.2:c.*635_*647del (MAP3K15)	XP_011543813.1:n.*635_*647del
NM_000284.4:c.*452_*464del (PDHA1) MANE Select	NP_000275.1:n.*452_*464del
NM_001001671.4:c.*635_*647del (MAP3K15) MANE Select	NP_001001671.3:n.*635_*647del
NM_001173454.2:c.*452_*464del (PDHA1)	NP_001166925.1:n.*452_*464del
NM_001173455.2:c.*452_*464del (PDHA1)	NP_001166926.1:n.*452_*464del
NM_001173456.2:c.*452_*464del (PDHA1)	NP_001166927.1:n.*452_*464del