Canonical Allele Identifier: CA913015111
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33743892_33743893del , CM000680.2:g.33743892_33743893del GRCh38
NC_000018.9:g.31323856_31323857del , CM000680.1:g.31323856_31323857del GRCh37
NC_000018.8:g.29577854_29577855del NCBI36
NG_055244.1:g.170316_170317del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.4047_4048del ENSP00000513003.1:p.Asn1349LysfsTer8
ENST00000269197.12:c.4044_4045del MANE Select ENSP00000269197.4:p.Asn1348LysfsTer8
ENST00000681521.1:c.3924_3925del ENSP00000506037.1:p.Asn1308LysfsTer8
ENST00000269197.9:c.4044_4045del ENSP00000269197.4:p.Asn1348LysfsTer8
NM_030632.1:c.4044_4045del NP_085135.1:p.Asn1348LysfsTer8
XM_005258356.1:c.4047_4048del XP_005258413.1:p.Asn1349LysfsTer8
XM_011526205.1:c.4020_4021del XP_011524507.1:p.Asn1340LysfsTer8
XM_011526206.1:c.3966_3967del XP_011524508.1:p.Asn1322LysfsTer8
XM_011526207.1:c.3966_3967del XP_011524509.1:p.Asn1322LysfsTer8
XM_011526208.1:c.3927_3928del XP_011524510.1:p.Asn1309LysfsTer8
XM_011526209.1:c.3876_3877del XP_011524511.1:p.Asn1292LysfsTer8
XM_011526210.1:c.3876_3877del XP_011524512.1:p.Asn1292LysfsTer8
XM_011526211.1:c.3876_3877del XP_011524513.1:p.Asn1292LysfsTer8
XM_011526212.1:c.3876_3877del XP_011524514.1:p.Asn1292LysfsTer8
XM_011526213.1:c.3876_3877del XP_011524515.1:p.Asn1292LysfsTer8
XM_011526214.1:c.3876_3877del XP_011524516.1:p.Asn1292LysfsTer8
XM_011526215.1:c.1008_1009del XP_011524517.1:p.Asn336LysfsTer8
NM_030632.2:c.4044_4045del NP_085135.1:p.Asn1348LysfsTer8
XM_011526205.2:c.4020_4021del XP_011524507.1:p.Asn1340LysfsTer8
XM_011526206.2:c.3966_3967del XP_011524508.1:p.Asn1322LysfsTer8
XM_011526213.2:c.3876_3877del XP_011524515.1:p.Asn1292LysfsTer8
XM_017026012.1:c.3966_3967del XP_016881501.1:p.Asn1322LysfsTer8
XM_017026013.1:c.3876_3877del XP_016881502.1:p.Asn1292LysfsTer8
XM_017026014.2:c.3876_3877del XP_016881503.1:p.Asn1292LysfsTer8
XM_024451269.1:c.3876_3877del XP_024307037.1:p.Asn1292LysfsTer8
NM_030632.3:c.4044_4045del MANE Select NP_085135.1:p.Asn1348LysfsTer8