Canonical Allele Identifier: CA635268547

Gene: ASXL1

Linked Data

• dbSNP Id: rs1569336879
• gnomAD v2: 20-31024083-A-AGGATTGAGGCCACCCAGGCTCCTGGAGCACCCCAAAAGAATTGCAAGGCAGTCCCAAGTTTTG
• MyVariant Identifiers: chr20:g.31024083_31024084insGGATTGAGGCCACCCAGGCTCCTGGAGCACCCCAAAAGAATTGCAAGGCAGTCCCAAGTTTTG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436281_32436343dup , CM000682.2:g.32436281_32436343dup	GRCh38
NC_000020.10:g.31024084_31024146dup , CM000682.1:g.31024084_31024146dup	GRCh37
NC_000020.9:g.30487745_30487807dup	NCBI36
NG_027868.1:g.82938_83000dup , LRG_630:g.82938_83000dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3569_3631dup MANE Select	ENSP00000364839.4:p.Phe1210_Asp1211insGlyIleGluAlaThrGlnAlaPr...
ENST00000646985.1:c.3386_3448dup	ENSP00000495053.1:p.Phe1149_Asp1150insGlyIleGluAlaThrGlnAlaPr...
ENST00000647223.1:n.5922_5984dup
ENST00000651418.1:c.1869+1700_1869+1762dup	ENSP00000499150.1:n.1869+1700_1869+1762dup
ENST00000306058.9:c.3554_3616dup	ENSP00000305119.5:p.Phe1205_Asp1206insGlyIleGluAlaThrGlnAlaPr...
ENST00000375687.8:c.3569_3631dup	ENSP00000364839.4:p.Phe1210_Asp1211insGlyIleGluAlaThrGlnAlaPr...
ENST00000613218.4:c.3569_3631dup	ENSP00000480487.1:p.Phe1210_Asp1211insGlyIleGluAlaThrGlnAlaPr...
ENST00000620121.4:c.3569_3631dup	ENSP00000481978.1:p.Phe1210_Asp1211insGlyIleGluAlaThrGlnAlaPr...
NM_015338.5:c.3569_3631dup , LRG_630t1:c.3569_3631dup	NP_056153.2:p.Phe1210_Asp1211insGlyIleGluAlaThrGlnAlaProGlyAl...
XM_006723727.2:c.3566_3628dup	XP_006723790.1:p.Phe1209_Asp1210insGlyIleGluAlaThrGlnAlaProGl...
XM_006723728.2:c.3539_3601dup	XP_006723791.1:p.Phe1200_Asp1201insGlyIleGluAlaThrGlnAlaProGl...
XM_006723730.2:c.3485_3547dup	XP_006723793.1:p.Phe1182_Asp1183insGlyIleGluAlaThrGlnAlaProGl...
XM_006723732.2:c.3386_3448dup	XP_006723795.1:p.Phe1149_Asp1150insGlyIleGluAlaThrGlnAlaProGl...
XM_006723733.1:c.2885_2947dup	XP_006723796.1:p.Phe982_Asp983insGlyIleGluAlaThrGlnAlaProGlyA...
XM_011528647.1:c.3833_3895dup	XP_011526949.1:p.Phe1298_Asp1299insGlyIleGluAlaThrGlnAlaProGl...
XM_011528648.1:c.3830_3892dup	XP_011526950.1:p.Phe1297_Asp1298insGlyIleGluAlaThrGlnAlaProGl...
XM_011528649.1:c.3749_3811dup	XP_011526951.1:p.Phe1270_Asp1271insGlyIleGluAlaThrGlnAlaProGl...
XM_011528650.1:c.3680_3742dup	XP_011526952.1:p.Phe1247_Asp1248insGlyIleGluAlaThrGlnAlaProGl...
XM_011528651.1:c.3548_3610dup	XP_011526953.1:p.Phe1203_Asp1204insGlyIleGluAlaThrGlnAlaProGl...
XM_011528652.1:c.3485_3547dup	XP_011526954.1:p.Phe1182_Asp1183insGlyIleGluAlaThrGlnAlaProGl...
NM_001363734.1:c.3386_3448dup	NP_001350663.1:p.Phe1149_Asp1150insGlyIleGluAlaThrGlnAlaProGl...
XM_006723727.3:c.3566_3628dup	XP_006723790.1:p.Phe1209_Asp1210insGlyIleGluAlaThrGlnAlaProGl...
XM_006723728.3:c.3539_3601dup	XP_006723791.1:p.Phe1200_Asp1201insGlyIleGluAlaThrGlnAlaProGl...
XM_006723730.4:c.3485_3547dup	XP_006723793.1:p.Phe1182_Asp1183insGlyIleGluAlaThrGlnAlaProGl...
XM_011528648.3:c.3830_3892dup	XP_011526950.1:p.Phe1297_Asp1298insGlyIleGluAlaThrGlnAlaProGl...
XM_011528652.2:c.3485_3547dup	XP_011526954.1:p.Phe1182_Asp1183insGlyIleGluAlaThrGlnAlaProGl...
XM_017027704.1:c.3485_3547dup	XP_016883193.1:p.Phe1182_Asp1183insGlyIleGluAlaThrGlnAlaProGl...
XM_017027705.1:c.3485_3547dup	XP_016883194.1:p.Phe1182_Asp1183insGlyIleGluAlaThrGlnAlaProGl...
XM_017027706.1:c.3416_3478dup	XP_016883195.1:p.Phe1159_Asp1160insGlyIleGluAlaThrGlnAlaProGl...
NM_015338.6:c.3569_3631dup MANE Select	NP_056153.2:p.Phe1210_Asp1211insGlyIleGluAlaThrGlnAlaProGlyAl...