Canonical Allele Identifier: CA145561

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71119402_71119416del , CM000685.2:g.71119402_71119416del	GRCh38
NC_000023.10:g.70339252_70339266del , CM000685.1:g.70339252_70339266del	GRCh37
NC_000023.9:g.70255977_70255991del	NCBI36
NG_012808.1:g.5847_5861del

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.129_143del MANE Select	NP_005111.2:p.Gly44_Gln48del
ENST00000374080.8:c.129_143del MANE Select	ENSP00000363193.3:p.Gly44_Gln48del
NM_005120.2:c.129_143del	NP_005111.2:p.Gly44_Gln48del
ENST00000333646.10:c.-331_-317del	ENSP00000333125.7:n.-331_-317del
ENST00000333646.11:c.129_143del	ENSP00000333125.8:p.Gly44_Gln48del
ENST00000374080.7:c.129_143del	ENSP00000363193.3:p.Gly44_Gln48del
ENST00000374102.5:c.129_143del	ENSP00000363215.1:p.Gly44_Gln48del
ENST00000374102.6:c.129_143del	ENSP00000363215.2:p.Gly44_Gln48del
ENST00000429213.2:c.83_97del
ENST00000429213.3:c.129_143del	ENSP00000399084.2:p.Gly44_Gln48del
ENST00000686548.1:c.*25_*39del	ENSP00000509582.1:n.*25_*39del
ENST00000687382.1:c.129_143del	ENSP00000510724.1:p.Gly44_Gln48del
ENST00000688663.1:c.129_143del	ENSP00000509348.1:p.Gly44_Gln48del
ENST00000688718.1:n.65_79del
ENST00000689008.1:c.*25_*39del	ENSP00000509134.1:n.*25_*39del
ENST00000690145.1:c.129_143del	ENSP00000508818.1:p.Gly44_Gln48del
ENST00000690242.1:c.129_143del	ENSP00000510090.1:p.Gly44_Gln48del
ENST00000690828.1:n.285_299del
ENST00000691468.1:c.129_143del	ENSP00000509011.1:p.Gly44_Gln48del
ENST00000692304.1:c.129_143del	ENSP00000508427.1:p.Gly44_Gln48del
ENST00000692864.1:c.*25_*39del	ENSP00000510321.1:n.*25_*39del
ENST00000693324.1:c.129_143del	ENSP00000508643.1:p.Gly44_Gln48del
XM_005262317.1:c.129_143del	XP_005262374.1:p.Gly44_Gln48del
XM_005262319.1:c.129_143del	XP_005262376.1:p.Gly44_Gln48del