Canonical Allele Identifier: CA10588698
Gene: ASXL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265615
ClinVar RCV Id: RCV000255751
dbSNP Id: rs886039670
MyVariant Identifiers: chr20:g.31023659_31023660del (hg19) chr20:g.32435856_32435857del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435856_32435857del , CM000682.2:g.32435856_32435857del GRCh38
NC_000020.10:g.31023659_31023660del , CM000682.1:g.31023659_31023660del GRCh37
NC_000020.9:g.30487320_30487321del NCBI36
NG_027868.1:g.82513_82514del , LRG_630:g.82513_82514del

Transcript Alleles

HGVS Amino-acid change
ENST00000375687.10:c.3144_3145del MANE Select ENSP00000364839.4:p.Asp1049HisfsTer?
ENST00000646985.1:c.2961_2962del ENSP00000495053.1:p.Asp988HisfsTer?
ENST00000647223.1:n.5497_5498del
ENST00000651418.1:c.1869+1275_1869+1276del ENSP00000499150.1:n.1869+1275_1869+1276de...
ENST00000306058.9:c.3129_3130del ENSP00000305119.5:p.Asp1044HisfsTer?
ENST00000375687.8:c.3144_3145del ENSP00000364839.4:p.Asp1049HisfsTer?
ENST00000613218.4:c.3144_3145del ENSP00000480487.1:p.Asp1049HisfsTer?
ENST00000620121.4:c.3144_3145del ENSP00000481978.1:p.Asp1049HisfsTer?
NM_015338.5:c.3144_3145del , LRG_630t1:c.3144_3145del NP_056153.2:p.Asp1049HisfsTer?
XM_006723727.2:c.3141_3142del XP_006723790.1:p.Asp1048HisfsTer?
XM_006723728.2:c.3114_3115del XP_006723791.1:p.Asp1039HisfsTer?
XM_006723730.2:c.3060_3061del XP_006723793.1:p.Asp1021HisfsTer?
XM_006723732.2:c.2961_2962del XP_006723795.1:p.Asp988HisfsTer?
XM_006723733.1:c.2460_2461del XP_006723796.1:p.Asp821HisfsTer?
XM_011528647.1:c.3408_3409del XP_011526949.1:p.Asp1137HisfsTer?
XM_011528648.1:c.3405_3406del XP_011526950.1:p.Asp1136HisfsTer?
XM_011528649.1:c.3324_3325del XP_011526951.1:p.Asp1109HisfsTer?
XM_011528650.1:c.3255_3256del XP_011526952.1:p.Asp1086HisfsTer?
XM_011528651.1:c.3123_3124del XP_011526953.1:p.Asp1042HisfsTer?
XM_011528652.1:c.3060_3061del XP_011526954.1:p.Asp1021HisfsTer?
NM_001363734.1:c.2961_2962del NP_001350663.1:p.Asp988HisfsTer?
XM_006723727.3:c.3141_3142del XP_006723790.1:p.Asp1048HisfsTer?
XM_006723728.3:c.3114_3115del XP_006723791.1:p.Asp1039HisfsTer?
XM_006723730.4:c.3060_3061del XP_006723793.1:p.Asp1021HisfsTer?
XM_011528648.3:c.3405_3406del XP_011526950.1:p.Asp1136HisfsTer?
XM_011528652.2:c.3060_3061del XP_011526954.1:p.Asp1021HisfsTer?
XM_017027704.1:c.3060_3061del XP_016883193.1:p.Asp1021HisfsTer?
XM_017027705.1:c.3060_3061del XP_016883194.1:p.Asp1021HisfsTer?
XM_017027706.1:c.2991_2992del XP_016883195.1:p.Asp998HisfsTer?
NM_015338.6:c.3144_3145del MANE Select NP_056153.2:p.Asp1049HisfsTer?
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