Canonical Allele Identifier: CA2580101307
Gene: MED12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71119358_71119359delinsTT , CM000685.2:g.71119358_71119359delinsTT GRCh38
NC_000023.10:g.70339208_70339209delinsTT , CM000685.1:g.70339208_70339209delinsTT GRCh37
NC_000023.9:g.70255933_70255934delinsTT NCBI36
NG_012808.1:g.5803_5804delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.100-15_100-14delinsTT ENSP00000333125.8:n.100-15_100-14delinsTT
ENST00000374102.6:c.100-15_100-14delinsTT ENSP00000363215.2:n.100-15_100-14delinsTT
ENST00000429213.3:c.100-15_100-14delinsTT ENSP00000399084.2:n.100-15_100-14delinsTT
ENST00000686548.1:c.119_120delinsTT ENSP00000509582.1:p.Arg40Leu
ENST00000687382.1:c.100-15_100-14delinsTT ENSP00000510724.1:n.100-15_100-14delinsTT
ENST00000688663.1:c.100-15_100-14delinsTT ENSP00000509348.1:n.100-15_100-14delinsTT
ENST00000688718.1:n.36-15_36-14delinsTT
ENST00000689008.1:c.119_120delinsTT ENSP00000509134.1:p.Arg40Leu
ENST00000690145.1:c.100-15_100-14delinsTT ENSP00000508818.1:n.100-15_100-14delinsTT
ENST00000690242.1:c.100-15_100-14delinsTT ENSP00000510090.1:n.100-15_100-14delinsTT
ENST00000690828.1:n.256-15_256-14delinsTT
ENST00000691468.1:c.100-15_100-14delinsTT ENSP00000509011.1:n.100-15_100-14delinsTT
ENST00000692304.1:c.100-15_100-14delinsTT ENSP00000508427.1:n.100-15_100-14delinsTT
ENST00000692864.1:c.119_120delinsTT ENSP00000510321.1:p.Arg40Leu
ENST00000693324.1:c.100-15_100-14delinsTT ENSP00000508643.1:n.100-15_100-14delinsTT
ENST00000374080.8:c.100-15_100-14delinsTT MANE Select ENSP00000363193.3:n.100-15_100-14delinsTT
ENST00000333646.10:c.-360-15_-360-14delinsTT ENSP00000333125.7:n.-360-15_-360-14delinsTT
ENST00000374080.7:c.100-15_100-14delinsTT ENSP00000363193.3:n.100-15_100-14delinsTT
ENST00000374102.5:c.100-15_100-14delinsTT ENSP00000363215.1:n.100-15_100-14delinsTT
ENST00000429213.2:c.39_40delinsTT
NM_005120.2:c.100-15_100-14delinsTT NP_005111.2:n.100-15_100-14delinsTT
XM_005262317.1:c.100-15_100-14delinsTT XP_005262374.1:n.100-15_100-14delinsTT
XM_005262319.1:c.100-15_100-14delinsTT XP_005262376.1:n.100-15_100-14delinsTT
NM_005120.3:c.100-15_100-14delinsTT MANE Select NP_005111.2:n.100-15_100-14delinsTT