Canonical Allele Identifier: CA327031888

Gene: PDHA1 MAP3K15

Linked Data

• dbSNP Id: rs1555936022
• gnomAD v3: X-19360064-G-GATACA
• gnomAD v4: X-19360064-G-GATACA
• MyVariant Identifiers: chrX:g.19378182_19378183insATACA (hg19) ; chrX:g.19360064_19360065insATACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19360068_19360072dup , CM000685.2:g.19360068_19360072dup	GRCh38
NC_000023.10:g.19378186_19378190dup , CM000685.1:g.19378186_19378190dup	GRCh37
NC_000023.9:g.19288107_19288111dup	NCBI36
NG_016781.1:g.21176_21180dup
NG_021184.1:g.160193_160197dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*415_*419dup (PDHA1)	ENSP00000348062.6:n.*415_*419dup
ENST00000423505.6:c.*415_*419dup (PDHA1)	ENSP00000406473.2:n.*415_*419dup
ENST00000696704.1:c.*920_*924dup (PDHA1)	ENSP00000512823.1:n.*920_*924dup
ENST00000696705.1:c.*1043_*1047dup (PDHA1)	ENSP00000512824.1:n.*1043_*1047dup
ENST00000338883.9:c.*680_*684dup (MAP3K15) MANE Select	ENSP00000345629.4:n.*680_*684dup
ENST00000422285.7:c.*415_*419dup (PDHA1) MANE Select	ENSP00000394382.2:n.*415_*419dup
ENST00000359173.7:c.3950_3954dup (MAP3K15)
ENST00000379806.9:c.*415_*419dup (PDHA1)	ENSP00000369134.5:n.*415_*419dup
ENST00000422285.6:c.*415_*419dup (PDHA1)	ENSP00000394382.2:n.*415_*419dup
ENST00000470101.1:n.2040_2044dup (MAP3K15)
ENST00000518578.5:n.4684_4688dup (MAP3K15)
ENST00000540249.5:c.*415_*419dup (PDHA1)	ENSP00000440761.1:n.*415_*419dup
ENST00000545074.5:c.*415_*419dup (PDHA1)	ENSP00000438550.1:n.*415_*419dup
NM_000284.3:c.*415_*419dup (PDHA1)	NP_000275.1:n.*415_*419dup
NM_001001671.3:c.4622_4626dup (MAP3K15)	NP_001001671.3:n.4622_4626dup
NM_001173454.1:c.*415_*419dup (PDHA1)	NP_001166925.1:n.*415_*419dup
NM_001173455.1:c.*415_*419dup (PDHA1)	NP_001166926.1:n.*415_*419dup
NM_001173456.1:c.*415_*419dup (PDHA1)	NP_001166927.1:n.*415_*419dup
XM_011545507.1:c.*680_*684dup (MAP3K15)	XP_011543809.1:n.*680_*684dup
XM_011545508.1:c.*680_*684dup (MAP3K15)	XP_011543810.1:n.*680_*684dup
XM_011545509.1:c.*680_*684dup (MAP3K15)	XP_011543811.1:n.*680_*684dup
XM_011545510.1:c.*680_*684dup (MAP3K15)	XP_011543812.1:n.*680_*684dup
XM_011545511.1:c.*680_*684dup (MAP3K15)	XP_011543813.1:n.*680_*684dup
XM_011545531.1:c.*415_*419dup (PDHA1)	XP_011543833.1:n.*415_*419dup
XM_011545532.1:c.*415_*419dup (PDHA1)	XP_011543834.1:n.*415_*419dup
XM_011545507.3:c.*680_*684dup (MAP3K15)	XP_011543809.3:n.*680_*684dup
XM_011545508.3:c.*680_*684dup (MAP3K15)	XP_011543810.3:n.*680_*684dup
XM_011545510.2:c.*680_*684dup (MAP3K15)	XP_011543812.1:n.*680_*684dup
XM_011545511.2:c.*680_*684dup (MAP3K15)	XP_011543813.1:n.*680_*684dup
NM_000284.4:c.*415_*419dup (PDHA1) MANE Select	NP_000275.1:n.*415_*419dup
NM_001001671.4:c.*680_*684dup (MAP3K15) MANE Select	NP_001001671.3:n.*680_*684dup
NM_001173454.2:c.*415_*419dup (PDHA1)	NP_001166925.1:n.*415_*419dup
NM_001173455.2:c.*415_*419dup (PDHA1)	NP_001166926.1:n.*415_*419dup
NM_001173456.2:c.*415_*419dup (PDHA1)	NP_001166927.1:n.*415_*419dup