Canonical Allele Identifier: CA2580098169

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1705710
• ClinVar RCV Id: RCV002284024

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436389_32436390del , CM000682.2:g.32436389_32436390del	GRCh38
NC_000020.10:g.31024192_31024193del , CM000682.1:g.31024192_31024193del	GRCh37
NC_000020.9:g.30487853_30487854del	NCBI36
NG_027868.1:g.83046_83047del , LRG_630:g.83046_83047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3677_3678del MANE Select	ENSP00000364839.4:p.Leu1226ArgfsTer13
ENST00000646985.1:c.3494_3495del	ENSP00000495053.1:p.Leu1165ArgfsTer13
ENST00000647223.1:n.6030_6031del
ENST00000651418.1:c.1869+1808_1869+1809del	ENSP00000499150.1:n.1869+1808_1869+1809del
ENST00000306058.9:c.3662_3663del	ENSP00000305119.5:p.Leu1221ArgfsTer13
ENST00000375687.8:c.3677_3678del	ENSP00000364839.4:p.Leu1226ArgfsTer13
ENST00000613218.4:c.3677_3678del	ENSP00000480487.1:p.Leu1226ArgfsTer13
ENST00000620121.4:c.3677_3678del	ENSP00000481978.1:p.Leu1226ArgfsTer13
NM_015338.5:c.3677_3678del , LRG_630t1:c.3677_3678del	NP_056153.2:p.Leu1226ArgfsTer13
XM_006723727.2:c.3674_3675del	XP_006723790.1:p.Leu1225ArgfsTer13
XM_006723728.2:c.3647_3648del	XP_006723791.1:p.Leu1216ArgfsTer13
XM_006723730.2:c.3593_3594del	XP_006723793.1:p.Leu1198ArgfsTer13
XM_006723732.2:c.3494_3495del	XP_006723795.1:p.Leu1165ArgfsTer13
XM_006723733.1:c.2993_2994del	XP_006723796.1:p.Leu998ArgfsTer13
XM_011528647.1:c.3941_3942del	XP_011526949.1:p.Leu1314ArgfsTer13
XM_011528648.1:c.3938_3939del	XP_011526950.1:p.Leu1313ArgfsTer13
XM_011528649.1:c.3857_3858del	XP_011526951.1:p.Leu1286ArgfsTer13
XM_011528650.1:c.3788_3789del	XP_011526952.1:p.Leu1263ArgfsTer13
XM_011528651.1:c.3656_3657del	XP_011526953.1:p.Leu1219ArgfsTer13
XM_011528652.1:c.3593_3594del	XP_011526954.1:p.Leu1198ArgfsTer13
NM_001363734.1:c.3494_3495del	NP_001350663.1:p.Leu1165ArgfsTer13
XM_006723727.3:c.3674_3675del	XP_006723790.1:p.Leu1225ArgfsTer13
XM_006723728.3:c.3647_3648del	XP_006723791.1:p.Leu1216ArgfsTer13
XM_006723730.4:c.3593_3594del	XP_006723793.1:p.Leu1198ArgfsTer13
XM_011528648.3:c.3938_3939del	XP_011526950.1:p.Leu1313ArgfsTer13
XM_011528652.2:c.3593_3594del	XP_011526954.1:p.Leu1198ArgfsTer13
XM_017027704.1:c.3593_3594del	XP_016883193.1:p.Leu1198ArgfsTer13
XM_017027705.1:c.3593_3594del	XP_016883194.1:p.Leu1198ArgfsTer13
XM_017027706.1:c.3524_3525del	XP_016883195.1:p.Leu1175ArgfsTer13
NM_015338.6:c.3677_3678del MANE Select	NP_056153.2:p.Leu1226ArgfsTer13