Canonical Allele Identifier: CA2580614336
Community Standard Title: NM_003816.3(ADAM9):c.543_546dup (p.Glu183TyrfsTer9)
Gene: ADAM9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.39017351_39017354dup , CM000670.2:g.39017351_39017354dup GRCh38
NC_000008.10:g.38874870_38874873dup , CM000670.1:g.38874870_38874873dup GRCh37
NC_000008.9:g.38994027_38994030dup NCBI36
NG_016335.1:g.25366_25369dup

Transcript Alleles

HGVS Amino-acid Change
NM_003816.3:c.543_546dup MANE Select NP_003807.1:p.Glu183TyrfsTer9
ENST00000487273.7:c.543_546dup MANE Select ENSP00000419446.2:p.Glu183TyrfsTer9
NM_003816.2:c.543_546dup NP_003807.1:p.Glu183TyrfsTer9
NR_027638.1:n.621_624dup
NR_027638.2:n.634_637dup
NR_027639.1:n.621_624dup
NR_027639.2:n.634_637dup
NR_027878.1:n.621_624dup
NR_027878.2:n.634_637dup
ENST00000379917.7:c.543_546dup ENSP00000369249.3:p.Glu183TyrfsTer9
ENST00000468065.5:c.543_546dup ENSP00000418737.1:p.Glu183TyrfsTer9
ENST00000481058.1:n.316_319dup
ENST00000481058.2:n.693_696dup
ENST00000481873.7:c.543_546dup ENSP00000418437.3:p.Glu183TyrfsTer9
ENST00000487273.6:c.543_546dup ENSP00000419446.2:p.Glu183TyrfsTer9
ENST00000676489.1:n.1656_1659dup
ENST00000676617.1:c.543_546dup ENSP00000504583.1:p.Glu183TyrfsTer9
ENST00000676643.1:c.543_546dup ENSP00000503079.1:p.Glu183TyrfsTer9
ENST00000676669.1:c.543_546dup ENSP00000503215.1:p.Glu183TyrfsTer9
ENST00000676765.1:c.543_546dup ENSP00000503374.1:p.Glu183TyrfsTer9
ENST00000676919.1:n.1664_1667dup
ENST00000676936.1:c.543_546dup ENSP00000504471.1:p.Glu183TyrfsTer9
ENST00000677004.1:c.543_546dup ENSP00000503932.1:p.Glu183TyrfsTer9
ENST00000677137.1:c.543_546dup ENSP00000502895.1:p.Glu183TyrfsTer9
ENST00000677165.1:c.543_546dup ENSP00000502865.1:p.Glu183TyrfsTer9
ENST00000677359.1:c.543_546dup ENSP00000504373.1:p.Glu183TyrfsTer9
ENST00000677582.1:c.543_546dup ENSP00000503648.1:p.Glu183TyrfsTer9
ENST00000677908.1:c.543_546dup ENSP00000504640.1:p.Glu183TyrfsTer9
ENST00000678253.1:c.*274_*277dup ENSP00000503454.1:n.*274_*277dup
ENST00000678474.1:c.543_546dup ENSP00000503418.1:p.Glu183TyrfsTer9
ENST00000678540.1:c.543_546dup ENSP00000503206.1:p.Glu183TyrfsTer9
ENST00000678730.1:c.*274_*277dup ENSP00000503523.1:n.*274_*277dup
ENST00000679268.1:c.543_546dup ENSP00000503584.1:p.Glu183TyrfsTer9
XM_011544682.1:c.489_492dup XP_011542984.1:p.Glu165TyrfsTer9
XM_011544682.2:c.489_492dup XP_011542984.1:p.Glu165TyrfsTer9
XM_017013942.1:c.549_552dup XP_016869431.1:p.Glu185TyrfsTer9
XR_001745615.1:n.564_567dup
XR_001745616.2:n.840_843dup
XR_001745617.1:n.5000_5003dup
XR_001745618.2:n.840_843dup
XR_949497.1:n.642_645dup