Canonical Allele Identifier: CA10606204

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 288745
• ClinVar RCV Id: RCV000592184 ; RCV000856733
• dbSNP Id: rs886043994
• MyVariant Identifiers: chr20:g.31021163_31021164del (hg19) ; chr20:g.32433360_32433361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32433360_32433361del , CM000682.2:g.32433360_32433361del	GRCh38
NC_000020.10:g.31021163_31021164del , CM000682.1:g.31021163_31021164del	GRCh37
NC_000020.9:g.30484824_30484825del	NCBI36
NG_027868.1:g.80017_80018del , LRG_630:g.80017_80018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.1162_1163del MANE Select	ENSP00000364839.4:p.Val388ProfsTer21
ENST00000644168.1:n.704_705del
ENST00000646985.1:c.979_980del	ENSP00000495053.1:p.Val327ProfsTer21
ENST00000647223.1:n.3001_3002del
ENST00000651418.1:c.1162_1163del	ENSP00000499150.1:p.Val388ProfsTer21
ENST00000306058.9:c.1147_1148del	ENSP00000305119.5:p.Val383ProfsTer21
ENST00000375687.8:c.1162_1163del	ENSP00000364839.4:p.Val388ProfsTer21
ENST00000553345.5:n.759_760del
ENST00000613218.4:c.1162_1163del	ENSP00000480487.1:p.Val388ProfsTer21
ENST00000620121.4:c.1162_1163del	ENSP00000481978.1:p.Val388ProfsTer21
NM_015338.5:c.1162_1163del , LRG_630t1:c.1162_1163del	NP_056153.2:p.Val388ProfsTer21
XM_006723727.2:c.1159_1160del	XP_006723790.1:p.Val387ProfsTer21
XM_006723728.2:c.1132_1133del	XP_006723791.1:p.Val378ProfsTer21
XM_006723730.2:c.1078_1079del	XP_006723793.1:p.Val360ProfsTer21
XM_006723732.2:c.979_980del	XP_006723795.1:p.Val327ProfsTer21
XM_006723733.1:c.478_479del	XP_006723796.1:p.Val160ProfsTer21
XM_011528647.1:c.1426_1427del	XP_011526949.1:p.Val476ProfsTer21
XM_011528648.1:c.1423_1424del	XP_011526950.1:p.Val475ProfsTer21
XM_011528649.1:c.1342_1343del	XP_011526951.1:p.Val448ProfsTer21
XM_011528650.1:c.1273_1274del	XP_011526952.1:p.Val425ProfsTer21
XM_011528651.1:c.1141_1142del	XP_011526953.1:p.Val381ProfsTer21
XM_011528652.1:c.1078_1079del	XP_011526954.1:p.Val360ProfsTer21
NM_001363734.1:c.979_980del	NP_001350663.1:p.Val327ProfsTer21
XM_006723727.3:c.1159_1160del	XP_006723790.1:p.Val387ProfsTer21
XM_006723728.3:c.1132_1133del	XP_006723791.1:p.Val378ProfsTer21
XM_006723730.4:c.1078_1079del	XP_006723793.1:p.Val360ProfsTer21
XM_011528648.3:c.1423_1424del	XP_011526950.1:p.Val475ProfsTer21
XM_011528652.2:c.1078_1079del	XP_011526954.1:p.Val360ProfsTer21
XM_017027704.1:c.1078_1079del	XP_016883193.1:p.Val360ProfsTer21
XM_017027705.1:c.1078_1079del	XP_016883194.1:p.Val360ProfsTer21
XM_017027706.1:c.1009_1010del	XP_016883195.1:p.Val337ProfsTer21
NM_015338.6:c.1162_1163del MANE Select	NP_056153.2:p.Val388ProfsTer21