Canonical Allele Identifier: CA658684237

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 488446
• ClinVar RCV Id: RCV000578410
• dbSNP Id: rs1555912709
• MyVariant Identifiers: chr20:g.31024269_31024273del (hg19) ; chr20:g.32436466_32436470del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436466_32436470del , CM000682.2:g.32436466_32436470del	GRCh38
NC_000020.10:g.31024269_31024273del , CM000682.1:g.31024269_31024273del	GRCh37
NC_000020.9:g.30487930_30487934del	NCBI36
NG_027868.1:g.83123_83127del , LRG_630:g.83123_83127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3754_3758del MANE Select	ENSP00000364839.4:p.Asp1252Ter
ENST00000646985.1:c.3571_3575del	ENSP00000495053.1:p.Asp1191Ter
ENST00000647223.1:n.6107_6111del
ENST00000651418.1:c.1869+1885_1869+1889del	ENSP00000499150.1:n.1869+1885_1869+1889del
ENST00000306058.9:c.3739_3743del	ENSP00000305119.5:p.Asp1247Ter
ENST00000375687.8:c.3754_3758del	ENSP00000364839.4:p.Asp1252Ter
ENST00000613218.4:c.3754_3758del	ENSP00000480487.1:p.Asp1252Ter
ENST00000620121.4:c.3754_3758del	ENSP00000481978.1:p.Asp1252Ter
NM_015338.5:c.3754_3758del , LRG_630t1:c.3754_3758del	NP_056153.2:p.Asp1252Ter
XM_006723727.2:c.3751_3755del	XP_006723790.1:p.Asp1251Ter
XM_006723728.2:c.3724_3728del	XP_006723791.1:p.Asp1242Ter
XM_006723730.2:c.3670_3674del	XP_006723793.1:p.Asp1224Ter
XM_006723732.2:c.3571_3575del	XP_006723795.1:p.Asp1191Ter
XM_006723733.1:c.3070_3074del	XP_006723796.1:p.Asp1024Ter
XM_011528647.1:c.4018_4022del	XP_011526949.1:p.Asp1340Ter
XM_011528648.1:c.4015_4019del	XP_011526950.1:p.Asp1339Ter
XM_011528649.1:c.3934_3938del	XP_011526951.1:p.Asp1312Ter
XM_011528650.1:c.3865_3869del	XP_011526952.1:p.Asp1289Ter
XM_011528651.1:c.3733_3737del	XP_011526953.1:p.Asp1245Ter
XM_011528652.1:c.3670_3674del	XP_011526954.1:p.Asp1224Ter
NM_001363734.1:c.3571_3575del	NP_001350663.1:p.Asp1191Ter
XM_006723727.3:c.3751_3755del	XP_006723790.1:p.Asp1251Ter
XM_006723728.3:c.3724_3728del	XP_006723791.1:p.Asp1242Ter
XM_006723730.4:c.3670_3674del	XP_006723793.1:p.Asp1224Ter
XM_011528648.3:c.4015_4019del	XP_011526950.1:p.Asp1339Ter
XM_011528652.2:c.3670_3674del	XP_011526954.1:p.Asp1224Ter
XM_017027704.1:c.3670_3674del	XP_016883193.1:p.Asp1224Ter
XM_017027705.1:c.3670_3674del	XP_016883194.1:p.Asp1224Ter
XM_017027706.1:c.3601_3605del	XP_016883195.1:p.Asp1201Ter
NM_015338.6:c.3754_3758del MANE Select	NP_056153.2:p.Asp1252Ter