Canonical Allele Identifier: CA145547

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71119395_71119421del , CM000685.2:g.71119395_71119421del	GRCh38
NC_000023.10:g.70339245_70339271del , CM000685.1:g.70339245_70339271del	GRCh37
NC_000023.9:g.70255970_70255996del	NCBI36
NG_012808.1:g.5840_5866del

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.122_148del MANE Select	NP_005111.2:p.Val41_Pro49del
ENST00000374080.8:c.122_148del MANE Select	ENSP00000363193.3:p.Val41_Pro49del
NM_005120.2:c.122_148del	NP_005111.2:p.Val41_Pro49del
ENST00000333646.10:c.-338_-312del	ENSP00000333125.7:n.-338_-312del
ENST00000333646.11:c.122_148del	ENSP00000333125.8:p.Val41_Pro49del
ENST00000374080.7:c.122_148del	ENSP00000363193.3:p.Val41_Pro49del
ENST00000374102.5:c.122_148del	ENSP00000363215.1:p.Val41_Pro49del
ENST00000374102.6:c.122_148del	ENSP00000363215.2:p.Val41_Pro49del
ENST00000429213.2:c.76_102del
ENST00000429213.3:c.122_148del	ENSP00000399084.2:p.Val41_Pro49del
ENST00000686548.1:c.*18_*44del	ENSP00000509582.1:n.*18_*44del
ENST00000687382.1:c.122_148del	ENSP00000510724.1:p.Val41_Pro49del
ENST00000688663.1:c.122_148del	ENSP00000509348.1:p.Val41_Pro49del
ENST00000688718.1:n.58_84del
ENST00000689008.1:c.*18_*44del	ENSP00000509134.1:n.*18_*44del
ENST00000690145.1:c.122_148del	ENSP00000508818.1:p.Val41_Pro49del
ENST00000690242.1:c.122_148del	ENSP00000510090.1:p.Val41_Pro49del
ENST00000690828.1:n.278_304del
ENST00000691468.1:c.122_148del	ENSP00000509011.1:p.Val41_Pro49del
ENST00000692304.1:c.122_148del	ENSP00000508427.1:p.Val41_Pro49del
ENST00000692864.1:c.*18_*44del	ENSP00000510321.1:n.*18_*44del
ENST00000693324.1:c.122_148del	ENSP00000508643.1:p.Val41_Pro49del
XM_005262317.1:c.122_148del	XP_005262374.1:p.Val41_Pro49del
XM_005262319.1:c.122_148del	XP_005262376.1:p.Val41_Pro49del