Canonical Allele Identifier: CA2582342913
Community Standard Title: NM_005120.3(MED12):c.4483_4490del (p.Gln1495GlyfsTer16)
Gene: MED12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71132912_71132919del , CM000685.2:g.71132912_71132919del GRCh38
NC_000023.10:g.70352762_70352769del , CM000685.1:g.70352762_70352769del GRCh37
NC_000023.9:g.70269487_70269494del NCBI36
NG_012808.1:g.19357_19364del

Transcript Alleles

HGVS Amino-acid Change
NM_005120.3:c.4483_4490del MANE Select NP_005111.2:p.Gln1495GlyfsTer16
ENST00000374080.8:c.4483_4490del MANE Select ENSP00000363193.3:p.Gln1495GlyfsTer16
NM_005120.2:c.4483_4490del NP_005111.2:p.Gln1495GlyfsTer16
ENST00000333646.10:c.4024_4031del ENSP00000333125.7:p.Gln1342GlyfsTer16
ENST00000333646.11:c.4363_4370del ENSP00000333125.8:p.Gln1455GlyfsTer16
ENST00000374080.7:c.4483_4490del ENSP00000363193.3:p.Gln1495GlyfsTer16
ENST00000374102.5:c.4483_4490del ENSP00000363215.1:p.Gln1495GlyfsTer16
ENST00000374102.6:c.4483_4490del ENSP00000363215.2:p.Gln1495GlyfsTer16
ENST00000685182.1:n.1286_1293del
ENST00000685655.1:c.369-211_369-204del ENSP00000509298.1:n.369-211_369-204del
ENST00000686169.1:n.860_867del
ENST00000686548.1:c.*4379_*4386del ENSP00000509582.1:n.*4379_*4386del
ENST00000687161.1:n.1198_1205del
ENST00000687382.1:c.4483_4490del ENSP00000510724.1:p.Gln1495GlyfsTer16
ENST00000687701.1:n.1112_1119del
ENST00000688079.1:n.2478_2485del
ENST00000688663.1:c.*1404_*1411del ENSP00000509348.1:n.*1404_*1411del
ENST00000688881.1:n.1137_1144del
ENST00000688993.1:n.854_861del
ENST00000689768.1:n.3093_3100del
ENST00000690145.1:c.4483_4490del ENSP00000508818.1:p.Gln1495GlyfsTer16
ENST00000690242.1:c.4483_4490del ENSP00000510090.1:p.Gln1495GlyfsTer16
ENST00000690250.1:n.2152_2159del
ENST00000690690.1:c.936_943del
ENST00000690828.1:n.4739_4746del
ENST00000691113.1:c.2962_2969del ENSP00000509755.1:n.2962_2969del
ENST00000691426.1:n.3782_3789del
ENST00000691468.1:c.4432_4439del ENSP00000509011.1:p.Gln1478GlyfsTer16
ENST00000691909.1:n.1203_1210del
ENST00000692304.1:c.4483_4490del ENSP00000508427.1:p.Gln1495GlyfsTer16
ENST00000692893.1:n.1792_1799del
ENST00000692964.1:n.1317_1324del
ENST00000693050.1:n.1160_1167del
ENST00000693324.1:c.4447_4454del ENSP00000508643.1:p.Gln1483GlyfsTer16
ENST00000693391.1:c.2428_2435del ENSP00000509563.1:p.Gln810GlyfsTer16
XM_005262317.1:c.4483_4490del XP_005262374.1:p.Gln1495GlyfsTer16
XM_005262319.1:c.4483_4490del XP_005262376.1:p.Gln1495GlyfsTer16