Canonical Allele Identifier: CA145529

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71119376_71119411del , CM000685.2:g.71119376_71119411del	GRCh38
NC_000023.10:g.70339226_70339261del , CM000685.1:g.70339226_70339261del	GRCh37
NC_000023.9:g.70255951_70255986del	NCBI36
NG_012808.1:g.5821_5856del

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.103_138del MANE Select	NP_005111.2:p.Glu35_Asn46del
ENST00000374080.8:c.103_138del MANE Select	ENSP00000363193.3:p.Glu35_Asn46del
NM_005120.2:c.103_138del	NP_005111.2:p.Glu35_Asn46del
ENST00000333646.10:c.-357_-322del	ENSP00000333125.7:n.-357_-322del
ENST00000333646.11:c.103_138del	ENSP00000333125.8:p.Glu35_Asn46del
ENST00000374080.7:c.103_138del	ENSP00000363193.3:p.Glu35_Asn46del
ENST00000374102.5:c.103_138del	ENSP00000363215.1:p.Glu35_Asn46del
ENST00000374102.6:c.103_138del	ENSP00000363215.2:p.Glu35_Asn46del
ENST00000429213.2:c.57_92del
ENST00000429213.3:c.103_138del	ENSP00000399084.2:p.Glu35_Asn46del
ENST00000686548.1:c.137_*34del	ENSP00000509582.1:n.[c.137_*34del;Ter46=]
ENST00000687382.1:c.103_138del	ENSP00000510724.1:p.Glu35_Asn46del
ENST00000688663.1:c.103_138del	ENSP00000509348.1:p.Glu35_Asn46del
ENST00000688718.1:n.39_74del
ENST00000689008.1:c.137_*34del	ENSP00000509134.1:n.[c.137_*34del;Ter46=]
ENST00000690145.1:c.103_138del	ENSP00000508818.1:p.Glu35_Asn46del
ENST00000690242.1:c.103_138del	ENSP00000510090.1:p.Glu35_Asn46del
ENST00000690828.1:n.259_294del
ENST00000691468.1:c.103_138del	ENSP00000509011.1:p.Glu35_Asn46del
ENST00000692304.1:c.103_138del	ENSP00000508427.1:p.Glu35_Asn46del
ENST00000692864.1:c.137_*34del	ENSP00000510321.1:n.[c.137_*34del;Ter46=]
ENST00000693324.1:c.103_138del	ENSP00000508643.1:p.Glu35_Asn46del
XM_005262317.1:c.103_138del	XP_005262374.1:p.Glu35_Asn46del
XM_005262319.1:c.103_138del	XP_005262376.1:p.Glu35_Asn46del