Canonical Allele Identifier: CA645619042

Gene: MED12

Linked Data

• COSMIC: COSM5701150 ; COSM5701151

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71132166dup , CM000685.2:g.71132166dup	GRCh38
NC_000023.10:g.70352016dup , CM000685.1:g.70352016dup	GRCh37
NC_000023.9:g.70268741dup	NCBI36
NG_012808.1:g.18611dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.4093dup	ENSP00000333125.8:p.Ser1365LysfsTer30
ENST00000374102.6:c.4213dup	ENSP00000363215.2:p.Ser1405LysfsTer30
ENST00000685182.1:n.846dup
ENST00000685655.1:c.166dup	ENSP00000509298.1:p.Ser56LysfsTer30
ENST00000686169.1:n.590dup
ENST00000686548.1:c.*4109dup	ENSP00000509582.1:n.*4109dup
ENST00000687161.1:n.928dup
ENST00000687382.1:c.4213dup	ENSP00000510724.1:p.Ser1405LysfsTer30
ENST00000687701.1:n.842dup
ENST00000688079.1:n.2208dup
ENST00000688663.1:c.*1134dup	ENSP00000509348.1:n.*1134dup
ENST00000688881.1:n.867dup
ENST00000688993.1:n.414dup
ENST00000689768.1:n.2823dup
ENST00000690145.1:c.4213dup	ENSP00000508818.1:p.Ser1405LysfsTer30
ENST00000690242.1:c.4213dup	ENSP00000510090.1:p.Ser1405LysfsTer30
ENST00000690250.1:n.1882dup
ENST00000690690.1:c.666dup
ENST00000690828.1:n.4469dup
ENST00000691113.1:c.2692dup	ENSP00000509755.1:n.2692dup
ENST00000691426.1:n.3342dup
ENST00000691468.1:c.4162dup	ENSP00000509011.1:p.Ser1388LysfsTer30
ENST00000691909.1:n.933dup
ENST00000692304.1:c.4213dup	ENSP00000508427.1:p.Ser1405LysfsTer30
ENST00000692893.1:n.1522dup
ENST00000692964.1:n.877dup
ENST00000693050.1:n.720dup
ENST00000693324.1:c.4177dup	ENSP00000508643.1:p.Ser1393LysfsTer30
ENST00000693391.1:c.2158dup	ENSP00000509563.1:p.Ser720LysfsTer30
ENST00000374080.8:c.4213dup MANE Select	ENSP00000363193.3:p.Ser1405LysfsTer30
ENST00000333646.10:c.3754dup	ENSP00000333125.7:p.Ser1252LysfsTer30
ENST00000374080.7:c.4213dup	ENSP00000363193.3:p.Ser1405LysfsTer30
ENST00000374102.5:c.4213dup	ENSP00000363215.1:p.Ser1405LysfsTer30
NM_005120.2:c.4213dup	NP_005111.2:p.Ser1405LysfsTer30
XM_005262317.1:c.4213dup	XP_005262374.1:p.Ser1405LysfsTer30
XM_005262319.1:c.4213dup	XP_005262376.1:p.Ser1405LysfsTer30
NM_005120.3:c.4213dup MANE Select	NP_005111.2:p.Ser1405LysfsTer30