Canonical Allele Identifier: CA2573054864

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1334757
• ClinVar RCV Id: RCV001814938
• dbSNP Id: rs2145379138

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435950del , CM000682.2:g.32435950del	GRCh38
NC_000020.10:g.31023753del , CM000682.1:g.31023753del	GRCh37
NC_000020.9:g.30487414del	NCBI36
NG_027868.1:g.82607del , LRG_630:g.82607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3238del MANE Select	ENSP00000364839.4:p.Leu1080TyrfsTer29
ENST00000646985.1:c.3055del	ENSP00000495053.1:p.Leu1019TyrfsTer29
ENST00000647223.1:n.5591del
ENST00000651418.1:c.1869+1369del	ENSP00000499150.1:n.1869+1369del
ENST00000306058.9:c.3223del	ENSP00000305119.5:p.Leu1075TyrfsTer29
ENST00000375687.8:c.3238del	ENSP00000364839.4:p.Leu1080TyrfsTer29
ENST00000613218.4:c.3238del	ENSP00000480487.1:p.Leu1080TyrfsTer29
ENST00000620121.4:c.3238del	ENSP00000481978.1:p.Leu1080TyrfsTer29
NM_015338.5:c.3238del , LRG_630t1:c.3238del	NP_056153.2:p.Leu1080TyrfsTer29
XM_006723727.2:c.3235del	XP_006723790.1:p.Leu1079TyrfsTer29
XM_006723728.2:c.3208del	XP_006723791.1:p.Leu1070TyrfsTer29
XM_006723730.2:c.3154del	XP_006723793.1:p.Leu1052TyrfsTer29
XM_006723732.2:c.3055del	XP_006723795.1:p.Leu1019TyrfsTer29
XM_006723733.1:c.2554del	XP_006723796.1:p.Leu852TyrfsTer29
XM_011528647.1:c.3502del	XP_011526949.1:p.Leu1168TyrfsTer29
XM_011528648.1:c.3499del	XP_011526950.1:p.Leu1167TyrfsTer29
XM_011528649.1:c.3418del	XP_011526951.1:p.Leu1140TyrfsTer29
XM_011528650.1:c.3349del	XP_011526952.1:p.Leu1117TyrfsTer29
XM_011528651.1:c.3217del	XP_011526953.1:p.Leu1073TyrfsTer29
XM_011528652.1:c.3154del	XP_011526954.1:p.Leu1052TyrfsTer29
NM_001363734.1:c.3055del	NP_001350663.1:p.Leu1019TyrfsTer29
XM_006723727.3:c.3235del	XP_006723790.1:p.Leu1079TyrfsTer29
XM_006723728.3:c.3208del	XP_006723791.1:p.Leu1070TyrfsTer29
XM_006723730.4:c.3154del	XP_006723793.1:p.Leu1052TyrfsTer29
XM_011528648.3:c.3499del	XP_011526950.1:p.Leu1167TyrfsTer29
XM_011528652.2:c.3154del	XP_011526954.1:p.Leu1052TyrfsTer29
XM_017027704.1:c.3154del	XP_016883193.1:p.Leu1052TyrfsTer29
XM_017027705.1:c.3154del	XP_016883194.1:p.Leu1052TyrfsTer29
XM_017027706.1:c.3085del	XP_016883195.1:p.Leu1029TyrfsTer29
NM_015338.6:c.3238del MANE Select	NP_056153.2:p.Leu1080TyrfsTer29