Canonical Allele Identifier: CA645532387

Gene: ASH1L

Linked Data

• ClinVar Variation Id: 817414
• ClinVar RCV Id: RCV001008541 ; RCV001249405
• dbSNP Id: rs1570934766
• COSMIC: COSM1600923

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155478646_155478647del , CM000663.2:g.155478646_155478647del	GRCh38
NC_000001.10:g.155448437_155448438del , CM000663.1:g.155448437_155448438del	GRCh37
NC_000001.9:g.153715061_153715062del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392403.8:c.4224_4225del MANE Select	ENSP00000376204.3:p.Tyr1409SerfsTer?
ENST00000548830.2:c.*3822_*3823del	ENSP00000449283.1:n.*3822_*3823del
ENST00000676814.1:c.4224_4225del	ENSP00000504300.1:p.Tyr1409SerfsTer?
ENST00000677042.1:c.4224_4225del	ENSP00000503440.1:p.Tyr1409SerfsTer?
ENST00000677213.1:c.4224_4225del	ENSP00000503315.1:p.Tyr1409SerfsTer?
ENST00000677825.1:c.4224_4225del	ENSP00000503792.1:p.Tyr1409SerfsTer?
ENST00000678117.1:c.4224_4225del	ENSP00000504629.1:p.Tyr1409SerfsTer?
ENST00000678699.1:c.4224_4225del	ENSP00000503202.1:p.Tyr1409SerfsTer?
ENST00000679097.1:c.4224_4225del	ENSP00000503265.1:p.Tyr1409SerfsTer?
ENST00000679133.1:c.4224_4225del	ENSP00000504026.1:p.Tyr1409SerfsTer?
ENST00000679333.1:c.4224_4225del	ENSP00000504598.1:p.Tyr1409SerfsTer?
ENST00000368346.7:c.4224_4225del	ENSP00000357330.3:p.Tyr1409SerfsTer?
ENST00000392403.7:c.4224_4225del	ENSP00000376204.3:p.Tyr1409SerfsTer?
NM_018489.2:c.4224_4225del	NP_060959.2:p.Tyr1409SerfsTer?
XM_005245337.3:c.4224_4225del	XP_005245394.1:p.Tyr1409SerfsTer?
XM_006711450.2:c.4224_4225del	XP_006711513.1:p.Tyr1409SerfsTer?
XM_006711451.2:c.4224_4225del	XP_006711514.1:p.Tyr1409SerfsTer?
XM_006711452.2:c.4224_4225del	XP_006711515.1:p.Tyr1409SerfsTer?
XM_011509769.1:c.4224_4225del	XP_011508071.1:p.Tyr1409SerfsTer?
NM_001366177.1:c.4224_4225del	NP_001353106.1:p.Tyr1409SerfsTer?
XM_005245337.5:c.4224_4225del	XP_005245394.1:p.Tyr1409SerfsTer?
XM_006711450.3:c.4224_4225del	XP_006711513.1:p.Tyr1409SerfsTer?
XM_006711451.3:c.4224_4225del	XP_006711514.1:p.Tyr1409SerfsTer?
XM_006711452.4:c.4224_4225del	XP_006711515.1:p.Tyr1409SerfsTer?
XM_011509769.3:c.4224_4225del	XP_011508071.1:p.Tyr1409SerfsTer?
XM_017001784.1:c.4224_4225del	XP_016857273.1:p.Tyr1409SerfsTer?
XM_017001785.1:c.4224_4225del	XP_016857274.1:p.Tyr1409SerfsTer?
XM_017001786.2:c.4224_4225del	XP_016857275.1:p.Tyr1409SerfsTer?
XM_017001787.2:c.4224_4225del	XP_016857276.1:p.Tyr1409SerfsTer?
NM_018489.3:c.4224_4225del MANE Select	NP_060959.2:p.Tyr1409SerfsTer?
NM_001366177.2:c.4224_4225del	NP_001353106.1:p.Tyr1409SerfsTer?