Canonical Allele Identifier: CA2812055533
Gene: ASXL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33739123_33739124insCCAAACACACCCAAC , CM000680.2:g.33739123_33739124insCCAAACACACCCAAC GRCh38
NC_000018.9:g.31319087_31319088insCCAAACACACCCAAC , CM000680.1:g.31319087_31319088insCCAAACACACCCAAC GRCh37
NC_000018.8:g.29573085_29573086insCCAAACACACCCAAC NCBI36
NG_055244.1:g.165547_165548insCCAAACACACCCAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.1722_1723insCCAAACACACCCAAC ENSP00000513003.1:p.Lys574_Thr575insProAsnThrProAsn
ENST00000269197.12:c.1719_1720insCCAAACACACCCAAC MANE Select ENSP00000269197.4:p.Lys573_Thr574insProAsnThrProAsn
ENST00000592288.6:c.*843_*844insCCAAACACACCCAAC ENSP00000465053.1:n.*843_*844insCCAAACACACCCAAC
ENST00000592541.6:c.*1378_*1379insCCAAACACACCCAAC ENSP00000466655.2:n.*1378_*1379insCCAAACACACCCAAC
ENST00000593195.6:c.1931_1932insCCAAACACACCCAAC ENSP00000466073.1:n.1931_1932insCCAAACACACCCAAC
ENST00000642541.1:c.1551_1552insCCAAACACACCCAAC ENSP00000493665.1:p.Lys517_Thr518insProAsnThrProAsn
ENST00000681521.1:c.1599_1600insCCAAACACACCCAAC ENSP00000506037.1:p.Lys533_Thr534insProAsnThrProAsn
ENST00000269197.9:c.1719_1720insCCAAACACACCCAAC ENSP00000269197.4:p.Lys573_Thr574insProAsnThrProAsn
ENST00000592288.5:c.*843_*844insCCAAACACACCCAAC ENSP00000465053.1:n.*843_*844insCCAAACACACCCAAC
NM_030632.1:c.1719_1720insCCAAACACACCCAAC NP_085135.1:p.Lys573_Thr574insProAsnThrProAsn
XM_005258356.1:c.1722_1723insCCAAACACACCCAAC XP_005258413.1:p.Lys574_Thr575insProAsnThrProAsn
XM_011526205.1:c.1695_1696insCCAAACACACCCAAC XP_011524507.1:p.Lys565_Thr566insProAsnThrProAsn
XM_011526206.1:c.1641_1642insCCAAACACACCCAAC XP_011524508.1:p.Lys547_Thr548insProAsnThrProAsn
XM_011526207.1:c.1641_1642insCCAAACACACCCAAC XP_011524509.1:p.Lys547_Thr548insProAsnThrProAsn
XM_011526208.1:c.1602_1603insCCAAACACACCCAAC XP_011524510.1:p.Lys534_Thr535insProAsnThrProAsn
XM_011526209.1:c.1551_1552insCCAAACACACCCAAC XP_011524511.1:p.Lys517_Thr518insProAsnThrProAsn
XM_011526210.1:c.1551_1552insCCAAACACACCCAAC XP_011524512.1:p.Lys517_Thr518insProAsnThrProAsn
XM_011526211.1:c.1551_1552insCCAAACACACCCAAC XP_011524513.1:p.Lys517_Thr518insProAsnThrProAsn
XM_011526212.1:c.1551_1552insCCAAACACACCCAAC XP_011524514.1:p.Lys517_Thr518insProAsnThrProAsn
XM_011526213.1:c.1551_1552insCCAAACACACCCAAC XP_011524515.1:p.Lys517_Thr518insProAsnThrProAsn
XM_011526214.1:c.1551_1552insCCAAACACACCCAAC XP_011524516.1:p.Lys517_Thr518insProAsnThrProAsn
NM_030632.2:c.1719_1720insCCAAACACACCCAAC NP_085135.1:p.Lys573_Thr574insProAsnThrProAsn
XM_011526205.2:c.1695_1696insCCAAACACACCCAAC XP_011524507.1:p.Lys565_Thr566insProAsnThrProAsn
XM_011526206.2:c.1641_1642insCCAAACACACCCAAC XP_011524508.1:p.Lys547_Thr548insProAsnThrProAsn
XM_011526213.2:c.1551_1552insCCAAACACACCCAAC XP_011524515.1:p.Lys517_Thr518insProAsnThrProAsn
XM_017026012.1:c.1641_1642insCCAAACACACCCAAC XP_016881501.1:p.Lys547_Thr548insProAsnThrProAsn
XM_017026013.1:c.1551_1552insCCAAACACACCCAAC XP_016881502.1:p.Lys517_Thr518insProAsnThrProAsn
XM_017026014.2:c.1551_1552insCCAAACACACCCAAC XP_016881503.1:p.Lys517_Thr518insProAsnThrProAsn
XM_024451269.1:c.1551_1552insCCAAACACACCCAAC XP_024307037.1:p.Lys517_Thr518insProAsnThrProAsn
NM_030632.3:c.1719_1720insCCAAACACACCCAAC MANE Select NP_085135.1:p.Lys573_Thr574insProAsnThrProAsn