Canonical Allele Identifier: CA2695197135
Community Standard Title: NM_005120.3(MED12):c.5625del (p.Gly1876GlufsTer7)
Gene: MED12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71137260del , CM000685.2:g.71137260del GRCh38
NC_000023.10:g.70357110del , CM000685.1:g.70357110del GRCh37
NC_000023.9:g.70273835del NCBI36
NG_012808.1:g.23705del

Transcript Alleles

HGVS Amino-acid Change
NM_005120.3:c.5625del MANE Select NP_005111.2:p.Gly1876GlufsTer7
ENST00000374080.8:c.5625del MANE Select ENSP00000363193.3:p.Gly1876GlufsTer7
NM_005120.2:c.5625del NP_005111.2:p.Gly1876GlufsTer7
ENST00000333646.10:c.5166del ENSP00000333125.7:p.Gly1723GlufsTer7
ENST00000333646.11:c.5505del ENSP00000333125.8:p.Gly1836GlufsTer7
ENST00000374080.7:c.5625del ENSP00000363193.3:p.Gly1876GlufsTer7
ENST00000374102.5:c.5625del ENSP00000363215.1:p.Gly1876GlufsTer7
ENST00000374102.6:c.5625del ENSP00000363215.2:p.Gly1876GlufsTer7
ENST00000444034.1:c.287del
ENST00000444034.2:c.600del ENSP00000404373.2:p.Gly201GlufsTer7
ENST00000685082.1:n.178del
ENST00000685182.1:n.2428del
ENST00000686169.1:n.2002del
ENST00000686548.1:c.*5521del ENSP00000509582.1:n.*5521del
ENST00000687161.1:n.2340del
ENST00000687382.1:c.5625del ENSP00000510724.1:p.Gly1876GlufsTer7
ENST00000687542.1:n.160del
ENST00000687701.1:n.2375del
ENST00000687973.1:n.124del
ENST00000688079.1:n.3620del
ENST00000688508.1:n.1176del
ENST00000688663.1:c.*2546del ENSP00000509348.1:n.*2546del
ENST00000688774.1:c.526+231del ENSP00000508823.1:n.526+231del
ENST00000688881.1:n.2279del
ENST00000688993.1:n.1996del
ENST00000689768.1:n.4235del
ENST00000690145.1:c.5625del ENSP00000508818.1:p.Gly1876GlufsTer7
ENST00000690242.1:c.5625del ENSP00000510090.1:p.Gly1876GlufsTer7
ENST00000690250.1:n.3294del
ENST00000690807.1:c.600del ENSP00000510476.1:p.Gly201GlufsTer7
ENST00000690828.1:n.5881del
ENST00000691113.1:c.4104del ENSP00000509755.1:n.4104del
ENST00000691426.1:n.4924del
ENST00000691468.1:c.5574del ENSP00000509011.1:p.Gly1859GlufsTer7
ENST00000691909.1:n.2345del
ENST00000692304.1:c.5625del ENSP00000508427.1:p.Gly1876GlufsTer7
ENST00000692893.1:n.2934del
ENST00000692964.1:n.2459del
ENST00000693182.1:n.329del
ENST00000693324.1:c.5589del ENSP00000508643.1:p.Gly1864GlufsTer7
ENST00000693391.1:c.3570del ENSP00000509563.1:p.Gly1191GlufsTer7
XM_005262317.1:c.5625del XP_005262374.1:p.Gly1876GlufsTer7
XM_005262319.1:c.5625del XP_005262376.1:p.Gly1876GlufsTer7