Canonical Allele Identifier: CA2573052339
Community Standard Title: NM_005612.5(REST):c.645dup (p.Ile216HisfsTer4)
Gene: REST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56911283dup , CM000666.2:g.56911283dup GRCh38
NC_000004.11:g.57777449dup , CM000666.1:g.57777449dup GRCh37
NC_000004.10:g.57472206dup NCBI36
NG_029447.1:g.8408dup

Transcript Alleles

HGVS Amino-acid Change
NM_005612.5:c.645dup MANE Select NP_005603.3:p.Ile216HisfsTer4
ENST00000309042.12:c.645dup MANE Select ENSP00000311816.7:p.Ile216HisfsTer4
NM_001193508.1:c.645dup NP_001180437.1:p.Ile216HisfsTer4
NM_001363453.1:c.645dup NP_001350382.1:p.Ile216HisfsTer4
NM_001363453.2:c.645dup NP_001350382.1:p.Ile216HisfsTer4
NM_005612.4:c.645dup NP_005603.3:p.Ile216HisfsTer4
ENST00000309042.11:c.645dup ENSP00000311816.7:p.Ile216HisfsTer4
ENST00000514063.1:n.72dup
ENST00000514063.2:c.645dup ENSP00000501649.1:p.Ile216HisfsTer4
ENST00000611211.1:c.645dup ENSP00000479151.1:p.Ile216HisfsTer4
ENST00000611211.2:c.645dup ENSP00000479151.2:p.Ile216HisfsTer4
ENST00000612429.4:c.645dup ENSP00000484206.1:p.Ile216HisfsTer4
ENST00000616975.4:c.645dup ENSP00000484058.1:p.Ile216HisfsTer4
ENST00000616975.5:c.645dup ENSP00000484058.1:p.Ile216HisfsTer4
ENST00000619101.4:c.645dup ENSP00000484836.1:p.Ile216HisfsTer4
ENST00000619101.5:c.645dup ENSP00000484836.2:p.Ile216HisfsTer4
ENST00000622863.4:c.302-53dup ENSP00000481650.1:n.302-53dup
ENST00000638187.2:c.645dup ENSP00000492006.2:p.Ile216HisfsTer4
ENST00000640168.2:c.645dup ENSP00000490969.1:p.Ile216HisfsTer4
ENST00000640343.2:c.645dup ENSP00000492813.1:p.Ile216HisfsTer4
ENST00000675105.1:c.645dup ENSP00000502313.1:p.Ile216HisfsTer4
ENST00000675341.1:c.451+194dup ENSP00000502488.1:n.451+194dup
XM_005265760.2:c.-175+3070dup XP_005265817.1:n.-175+3070dup
XM_011534401.1:c.645dup XP_011532703.1:p.Ile216HisfsTer4
XM_017008527.1:c.645dup XP_016864016.1:p.Ile216HisfsTer4