Canonical Allele Identifier: CA16620924
Gene: ASXL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424055
ClinVar RCV Id: RCV000481961
dbSNP Id: rs1064796772

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435678_32435679del , CM000682.2:g.32435678_32435679del GRCh38
NC_000020.10:g.31023481_31023482del , CM000682.1:g.31023481_31023482del GRCh37
NC_000020.9:g.30487142_30487143del NCBI36
NG_027868.1:g.82335_82336del , LRG_630:g.82335_82336del

Transcript Alleles

HGVS Amino-acid change
ENST00000375687.10:c.2966_2967del MANE Select ENSP00000364839.4:p.Ser989Ter
ENST00000646985.1:c.2783_2784del ENSP00000495053.1:p.Ser928Ter
ENST00000647223.1:n.5319_5320del
ENST00000651418.1:c.1869+1097_1869+1098del ENSP00000499150.1:n.1869+1097_1869+1098de...
ENST00000306058.9:c.2951_2952del ENSP00000305119.5:p.Ser984Ter
ENST00000375687.8:c.2966_2967del ENSP00000364839.4:p.Ser989Ter
ENST00000613218.4:c.2966_2967del ENSP00000480487.1:p.Ser989Ter
ENST00000620121.4:c.2966_2967del ENSP00000481978.1:p.Ser989Ter
NM_015338.5:c.2966_2967del , LRG_630t1:c.2966_2967del NP_056153.2:p.Ser989Ter
XM_006723727.2:c.2963_2964del XP_006723790.1:p.Ser988Ter
XM_006723728.2:c.2936_2937del XP_006723791.1:p.Ser979Ter
XM_006723730.2:c.2882_2883del XP_006723793.1:p.Ser961Ter
XM_006723732.2:c.2783_2784del XP_006723795.1:p.Ser928Ter
XM_006723733.1:c.2282_2283del XP_006723796.1:p.Ser761Ter
XM_011528647.1:c.3230_3231del XP_011526949.1:p.Ser1077Ter
XM_011528648.1:c.3227_3228del XP_011526950.1:p.Ser1076Ter
XM_011528649.1:c.3146_3147del XP_011526951.1:p.Ser1049Ter
XM_011528650.1:c.3077_3078del XP_011526952.1:p.Ser1026Ter
XM_011528651.1:c.2945_2946del XP_011526953.1:p.Ser982Ter
XM_011528652.1:c.2882_2883del XP_011526954.1:p.Ser961Ter
NM_001363734.1:c.2783_2784del NP_001350663.1:p.Ser928Ter
XM_006723727.3:c.2963_2964del XP_006723790.1:p.Ser988Ter
XM_006723728.3:c.2936_2937del XP_006723791.1:p.Ser979Ter
XM_006723730.4:c.2882_2883del XP_006723793.1:p.Ser961Ter
XM_011528648.3:c.3227_3228del XP_011526950.1:p.Ser1076Ter
XM_011528652.2:c.2882_2883del XP_011526954.1:p.Ser961Ter
XM_017027704.1:c.2882_2883del XP_016883193.1:p.Ser961Ter
XM_017027705.1:c.2882_2883del XP_016883194.1:p.Ser961Ter
XM_017027706.1:c.2813_2814del XP_016883195.1:p.Ser938Ter
NM_015338.6:c.2966_2967del MANE Select NP_056153.2:p.Ser989Ter