Canonical Allele Identifier: CA2652401236

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436375-ATCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436378_32436380del , CM000682.2:g.32436378_32436380del	GRCh38
NC_000020.10:g.31024181_31024183del , CM000682.1:g.31024181_31024183del	GRCh37
NC_000020.9:g.30487842_30487844del	NCBI36
NG_027868.1:g.83035_83037del , LRG_630:g.83035_83037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3666_3668del MANE Select	ENSP00000364839.4:p.Ser1223del
ENST00000646985.1:c.3483_3485del	ENSP00000495053.1:p.Ser1162del
ENST00000647223.1:n.6019_6021del
ENST00000651418.1:c.1869+1797_1869+1799del	ENSP00000499150.1:n.1869+1797_1869+1799del
ENST00000306058.9:c.3651_3653del	ENSP00000305119.5:p.Ser1218del
ENST00000375687.8:c.3666_3668del	ENSP00000364839.4:p.Ser1223del
ENST00000613218.4:c.3666_3668del	ENSP00000480487.1:p.Ser1223del
ENST00000620121.4:c.3666_3668del	ENSP00000481978.1:p.Ser1223del
NM_015338.5:c.3666_3668del , LRG_630t1:c.3666_3668del	NP_056153.2:p.Ser1223del
XM_006723727.2:c.3663_3665del	XP_006723790.1:p.Ser1222del
XM_006723728.2:c.3636_3638del	XP_006723791.1:p.Ser1213del
XM_006723730.2:c.3582_3584del	XP_006723793.1:p.Ser1195del
XM_006723732.2:c.3483_3485del	XP_006723795.1:p.Ser1162del
XM_006723733.1:c.2982_2984del	XP_006723796.1:p.Ser995del
XM_011528647.1:c.3930_3932del	XP_011526949.1:p.Ser1311del
XM_011528648.1:c.3927_3929del	XP_011526950.1:p.Ser1310del
XM_011528649.1:c.3846_3848del	XP_011526951.1:p.Ser1283del
XM_011528650.1:c.3777_3779del	XP_011526952.1:p.Ser1260del
XM_011528651.1:c.3645_3647del	XP_011526953.1:p.Ser1216del
XM_011528652.1:c.3582_3584del	XP_011526954.1:p.Ser1195del
NM_001363734.1:c.3483_3485del	NP_001350663.1:p.Ser1162del
XM_006723727.3:c.3663_3665del	XP_006723790.1:p.Ser1222del
XM_006723728.3:c.3636_3638del	XP_006723791.1:p.Ser1213del
XM_006723730.4:c.3582_3584del	XP_006723793.1:p.Ser1195del
XM_011528648.3:c.3927_3929del	XP_011526950.1:p.Ser1310del
XM_011528652.2:c.3582_3584del	XP_011526954.1:p.Ser1195del
XM_017027704.1:c.3582_3584del	XP_016883193.1:p.Ser1195del
XM_017027705.1:c.3582_3584del	XP_016883194.1:p.Ser1195del
XM_017027706.1:c.3513_3515del	XP_016883195.1:p.Ser1172del
NM_015338.6:c.3666_3668del MANE Select	NP_056153.2:p.Ser1223del