Canonical Allele Identifier: CA2573051382
Community Standard Title: NM_018489.3(ASH1L):c.3976dup (p.Ser1326LysfsTer20)
Gene: ASH1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155478894dup , CM000663.2:g.155478894dup GRCh38
NC_000001.10:g.155448685dup , CM000663.1:g.155448685dup GRCh37
NC_000001.9:g.153715309dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018489.3:c.3976dup MANE Select NP_060959.2:p.Ser1326LysfsTer20
ENST00000392403.8:c.3976dup MANE Select ENSP00000376204.3:p.Ser1326LysfsTer20
NM_001366177.1:c.3976dup NP_001353106.1:p.Ser1326LysfsTer20
NM_001366177.2:c.3976dup NP_001353106.1:p.Ser1326LysfsTer20
NM_018489.2:c.3976dup NP_060959.2:p.Ser1326LysfsTer20
ENST00000368346.7:c.3976dup ENSP00000357330.3:p.Ser1326LysfsTer20
ENST00000392403.7:c.3976dup ENSP00000376204.3:p.Ser1326LysfsTer20
ENST00000548830.2:c.*3574dup ENSP00000449283.1:n.*3574dup
ENST00000676814.1:c.3976dup ENSP00000504300.1:p.Ser1326LysfsTer20
ENST00000677042.1:c.3976dup ENSP00000503440.1:p.Ser1326LysfsTer20
ENST00000677213.1:c.3976dup ENSP00000503315.1:p.Ser1326LysfsTer20
ENST00000677825.1:c.3976dup ENSP00000503792.1:p.Ser1326LysfsTer20
ENST00000678117.1:c.3976dup ENSP00000504629.1:p.Ser1326LysfsTer20
ENST00000678699.1:c.3976dup ENSP00000503202.1:p.Ser1326LysfsTer20
ENST00000679097.1:c.3976dup ENSP00000503265.1:p.Ser1326LysfsTer20
ENST00000679133.1:c.3976dup ENSP00000504026.1:p.Ser1326LysfsTer20
ENST00000679333.1:c.3976dup ENSP00000504598.1:p.Ser1326LysfsTer20
XM_005245337.3:c.3976dup XP_005245394.1:p.Ser1326LysfsTer20
XM_005245337.5:c.3976dup XP_005245394.1:p.Ser1326LysfsTer20
XM_006711450.2:c.3976dup XP_006711513.1:p.Ser1326LysfsTer20
XM_006711450.3:c.3976dup XP_006711513.1:p.Ser1326LysfsTer20
XM_006711451.2:c.3976dup XP_006711514.1:p.Ser1326LysfsTer20
XM_006711451.3:c.3976dup XP_006711514.1:p.Ser1326LysfsTer20
XM_006711452.2:c.3976dup XP_006711515.1:p.Ser1326LysfsTer20
XM_006711452.4:c.3976dup XP_006711515.1:p.Ser1326LysfsTer20
XM_011509769.1:c.3976dup XP_011508071.1:p.Ser1326LysfsTer20
XM_011509769.3:c.3976dup XP_011508071.1:p.Ser1326LysfsTer20
XM_017001784.1:c.3976dup XP_016857273.1:p.Ser1326LysfsTer20
XM_017001785.1:c.3976dup XP_016857274.1:p.Ser1326LysfsTer20
XM_017001786.2:c.3976dup XP_016857275.1:p.Ser1326LysfsTer20
XM_017001787.2:c.3976dup XP_016857276.1:p.Ser1326LysfsTer20