Canonical Allele Identifier: CA2573156975

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1450166
• ClinVar RCV Id: RCV001990002
• dbSNP Id: rs2145390641

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436684_32436685delinsCT , CM000682.2:g.32436684_32436685delinsCT	GRCh38
NC_000020.10:g.31024487_31024488delinsCT , CM000682.1:g.31024487_31024488delinsCT	GRCh37
NC_000020.9:g.30488148_30488149delinsCT	NCBI36
NG_027868.1:g.83341_83342delinsCT , LRG_630:g.83341_83342delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3972_3973delinsCT MANE Select	ENSP00000364839.4:p.Leu1325Phe
ENST00000646985.1:c.3789_3790delinsCT	ENSP00000495053.1:p.Leu1264Phe
ENST00000647223.1:n.6325_6326delinsCT
ENST00000651418.1:c.1870-1746_1870-1745delinsCT	ENSP00000499150.1:n.1870-1746_1870-1745delinsCT
ENST00000306058.9:c.3957_3958delinsCT	ENSP00000305119.5:p.Leu1320Phe
ENST00000375687.8:c.3972_3973delinsCT	ENSP00000364839.4:p.Leu1325Phe
ENST00000613218.4:c.3972_3973delinsCT	ENSP00000480487.1:p.Leu1325Phe
ENST00000620121.4:c.3972_3973delinsCT	ENSP00000481978.1:p.Leu1325Phe
NM_015338.5:c.3972_3973delinsCT , LRG_630t1:c.3972_3973delinsCT	NP_056153.2:p.Leu1325Phe
XM_006723727.2:c.3969_3970delinsCT	XP_006723790.1:p.Leu1324Phe
XM_006723728.2:c.3942_3943delinsCT	XP_006723791.1:p.Leu1315Phe
XM_006723730.2:c.3888_3889delinsCT	XP_006723793.1:p.Leu1297Phe
XM_006723732.2:c.3789_3790delinsCT	XP_006723795.1:p.Leu1264Phe
XM_006723733.1:c.3288_3289delinsCT	XP_006723796.1:p.Leu1097Phe
XM_011528647.1:c.4236_4237delinsCT	XP_011526949.1:p.Leu1413Phe
XM_011528648.1:c.4233_4234delinsCT	XP_011526950.1:p.Leu1412Phe
XM_011528649.1:c.4152_4153delinsCT	XP_011526951.1:p.Leu1385Phe
XM_011528650.1:c.4083_4084delinsCT	XP_011526952.1:p.Leu1362Phe
XM_011528651.1:c.3951_3952delinsCT	XP_011526953.1:p.Leu1318Phe
XM_011528652.1:c.3888_3889delinsCT	XP_011526954.1:p.Leu1297Phe
NM_001363734.1:c.3789_3790delinsCT	NP_001350663.1:p.Leu1264Phe
XM_006723727.3:c.3969_3970delinsCT	XP_006723790.1:p.Leu1324Phe
XM_006723728.3:c.3942_3943delinsCT	XP_006723791.1:p.Leu1315Phe
XM_006723730.4:c.3888_3889delinsCT	XP_006723793.1:p.Leu1297Phe
XM_011528648.3:c.4233_4234delinsCT	XP_011526950.1:p.Leu1412Phe
XM_011528652.2:c.3888_3889delinsCT	XP_011526954.1:p.Leu1297Phe
XM_017027704.1:c.3888_3889delinsCT	XP_016883193.1:p.Leu1297Phe
XM_017027705.1:c.3888_3889delinsCT	XP_016883194.1:p.Leu1297Phe
XM_017027706.1:c.3819_3820delinsCT	XP_016883195.1:p.Leu1274Phe
NM_015338.6:c.3972_3973delinsCT MANE Select	NP_056153.2:p.Leu1325Phe