Canonical Allele Identifier: CA635268570

Gene: ASXL1

Linked Data

• dbSNP Id: rs1569336275
• gnomAD v2: 20-31023957-C-CG
• gnomAD v4: 20-32436154-C-CG
• MyVariant Identifiers: chr20:g.31023957_31023958insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436155dup , CM000682.2:g.32436155dup	GRCh38
NC_000020.10:g.31023958dup , CM000682.1:g.31023958dup	GRCh37
NC_000020.9:g.30487619dup	NCBI36
NG_027868.1:g.82812dup , LRG_630:g.82812dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3443dup MANE Select	ENSP00000364839.4:p.Met1149HisfsTer15
ENST00000646985.1:c.3260dup	ENSP00000495053.1:p.Met1088HisfsTer15
ENST00000647223.1:n.5796dup
ENST00000651418.1:c.1869+1574dup	ENSP00000499150.1:n.1869+1574dup
ENST00000306058.9:c.3428dup	ENSP00000305119.5:p.Met1144HisfsTer15
ENST00000375687.8:c.3443dup	ENSP00000364839.4:p.Met1149HisfsTer15
ENST00000613218.4:c.3443dup	ENSP00000480487.1:p.Met1149HisfsTer15
ENST00000620121.4:c.3443dup	ENSP00000481978.1:p.Met1149HisfsTer15
NM_015338.5:c.3443dup , LRG_630t1:c.3443dup	NP_056153.2:p.Met1149HisfsTer15
XM_006723727.2:c.3440dup	XP_006723790.1:p.Met1148HisfsTer15
XM_006723728.2:c.3413dup	XP_006723791.1:p.Met1139HisfsTer15
XM_006723730.2:c.3359dup	XP_006723793.1:p.Met1121HisfsTer15
XM_006723732.2:c.3260dup	XP_006723795.1:p.Met1088HisfsTer15
XM_006723733.1:c.2759dup	XP_006723796.1:p.Met921HisfsTer15
XM_011528647.1:c.3707dup	XP_011526949.1:p.Met1237HisfsTer15
XM_011528648.1:c.3704dup	XP_011526950.1:p.Met1236HisfsTer15
XM_011528649.1:c.3623dup	XP_011526951.1:p.Met1209HisfsTer15
XM_011528650.1:c.3554dup	XP_011526952.1:p.Met1186HisfsTer15
XM_011528651.1:c.3422dup	XP_011526953.1:p.Met1142HisfsTer15
XM_011528652.1:c.3359dup	XP_011526954.1:p.Met1121HisfsTer15
NM_001363734.1:c.3260dup	NP_001350663.1:p.Met1088HisfsTer15
XM_006723727.3:c.3440dup	XP_006723790.1:p.Met1148HisfsTer15
XM_006723728.3:c.3413dup	XP_006723791.1:p.Met1139HisfsTer15
XM_006723730.4:c.3359dup	XP_006723793.1:p.Met1121HisfsTer15
XM_011528648.3:c.3704dup	XP_011526950.1:p.Met1236HisfsTer15
XM_011528652.2:c.3359dup	XP_011526954.1:p.Met1121HisfsTer15
XM_017027704.1:c.3359dup	XP_016883193.1:p.Met1121HisfsTer15
XM_017027705.1:c.3359dup	XP_016883194.1:p.Met1121HisfsTer15
XM_017027706.1:c.3290dup	XP_016883195.1:p.Met1098HisfsTer15
NM_015338.6:c.3443dup MANE Select	NP_056153.2:p.Met1149HisfsTer15