Canonical Allele Identifier: CA915952508
Gene: ASXL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 813001
ClinVar RCV Id: RCV001003998
dbSNP Id: rs1599573759

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33744224del , CM000680.2:g.33744224del GRCh38
NC_000018.9:g.31324188del , CM000680.1:g.31324188del GRCh37
NC_000018.8:g.29578186del NCBI36
NG_055244.1:g.170648del

Transcript Alleles

HGVS Amino-acid change
ENST00000696964.1:c.4379del ENSP00000513003.1:p.Gly1460AlafsTer7
ENST00000269197.12:c.4376del MANE Select ENSP00000269197.4:p.Gly1459AlafsTer7
ENST00000681521.1:c.4256del ENSP00000506037.1:p.Gly1419AlafsTer7
ENST00000269197.9:c.4376del ENSP00000269197.4:p.Gly1459AlafsTer7
NM_030632.1:c.4376del NP_085135.1:p.Gly1459AlafsTer7
XM_005258356.1:c.4379del XP_005258413.1:p.Gly1460AlafsTer7
XM_011526205.1:c.4352del XP_011524507.1:p.Gly1451AlafsTer7
XM_011526206.1:c.4298del XP_011524508.1:p.Gly1433AlafsTer7
XM_011526207.1:c.4298del XP_011524509.1:p.Gly1433AlafsTer7
XM_011526208.1:c.4259del XP_011524510.1:p.Gly1420AlafsTer7
XM_011526209.1:c.4208del XP_011524511.1:p.Gly1403AlafsTer7
XM_011526210.1:c.4208del XP_011524512.1:p.Gly1403AlafsTer7
XM_011526211.1:c.4208del XP_011524513.1:p.Gly1403AlafsTer7
XM_011526212.1:c.4208del XP_011524514.1:p.Gly1403AlafsTer7
XM_011526213.1:c.4208del XP_011524515.1:p.Gly1403AlafsTer7
XM_011526214.1:c.4208del XP_011524516.1:p.Gly1403AlafsTer7
XM_011526215.1:c.1340del XP_011524517.1:p.Gly447AlafsTer7
NM_030632.2:c.4376del NP_085135.1:p.Gly1459AlafsTer7
XM_011526205.2:c.4352del XP_011524507.1:p.Gly1451AlafsTer7
XM_011526206.2:c.4298del XP_011524508.1:p.Gly1433AlafsTer7
XM_011526213.2:c.4208del XP_011524515.1:p.Gly1403AlafsTer7
XM_017026012.1:c.4298del XP_016881501.1:p.Gly1433AlafsTer7
XM_017026013.1:c.4208del XP_016881502.1:p.Gly1403AlafsTer7
XM_017026014.2:c.4208del XP_016881503.1:p.Gly1403AlafsTer7
XM_024451269.1:c.4208del XP_024307037.1:p.Gly1403AlafsTer7
NM_030632.3:c.4376del MANE Select NP_085135.1:p.Gly1459AlafsTer7