Canonical Allele Identifier: CA2740097058

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 3024329
• ClinVar RCV Id: RCV003883375

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436459_32436460del , CM000682.2:g.32436459_32436460del	GRCh38
NC_000020.10:g.31024262_31024263del , CM000682.1:g.31024262_31024263del	GRCh37
NC_000020.9:g.30487923_30487924del	NCBI36
NG_027868.1:g.83116_83117del , LRG_630:g.83116_83117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3747_3748del MANE Select	ENSP00000364839.4:p.Met1249IlefsTer5
ENST00000646985.1:c.3564_3565del	ENSP00000495053.1:p.Met1188IlefsTer5
ENST00000647223.1:n.6100_6101del
ENST00000651418.1:c.1869+1878_1869+1879del	ENSP00000499150.1:n.1869+1878_1869+1879del
ENST00000306058.9:c.3732_3733del	ENSP00000305119.5:p.Met1244IlefsTer5
ENST00000375687.8:c.3747_3748del	ENSP00000364839.4:p.Met1249IlefsTer5
ENST00000613218.4:c.3747_3748del	ENSP00000480487.1:p.Met1249IlefsTer5
ENST00000620121.4:c.3747_3748del	ENSP00000481978.1:p.Met1249IlefsTer5
NM_015338.5:c.3747_3748del , LRG_630t1:c.3747_3748del	NP_056153.2:p.Met1249IlefsTer5
XM_006723727.2:c.3744_3745del	XP_006723790.1:p.Met1248IlefsTer5
XM_006723728.2:c.3717_3718del	XP_006723791.1:p.Met1239IlefsTer5
XM_006723730.2:c.3663_3664del	XP_006723793.1:p.Met1221IlefsTer5
XM_006723732.2:c.3564_3565del	XP_006723795.1:p.Met1188IlefsTer5
XM_006723733.1:c.3063_3064del	XP_006723796.1:p.Met1021IlefsTer5
XM_011528647.1:c.4011_4012del	XP_011526949.1:p.Met1337IlefsTer5
XM_011528648.1:c.4008_4009del	XP_011526950.1:p.Met1336IlefsTer5
XM_011528649.1:c.3927_3928del	XP_011526951.1:p.Met1309IlefsTer5
XM_011528650.1:c.3858_3859del	XP_011526952.1:p.Met1286IlefsTer5
XM_011528651.1:c.3726_3727del	XP_011526953.1:p.Met1242IlefsTer5
XM_011528652.1:c.3663_3664del	XP_011526954.1:p.Met1221IlefsTer5
NM_001363734.1:c.3564_3565del	NP_001350663.1:p.Met1188IlefsTer5
XM_006723727.3:c.3744_3745del	XP_006723790.1:p.Met1248IlefsTer5
XM_006723728.3:c.3717_3718del	XP_006723791.1:p.Met1239IlefsTer5
XM_006723730.4:c.3663_3664del	XP_006723793.1:p.Met1221IlefsTer5
XM_011528648.3:c.4008_4009del	XP_011526950.1:p.Met1336IlefsTer5
XM_011528652.2:c.3663_3664del	XP_011526954.1:p.Met1221IlefsTer5
XM_017027704.1:c.3663_3664del	XP_016883193.1:p.Met1221IlefsTer5
XM_017027705.1:c.3663_3664del	XP_016883194.1:p.Met1221IlefsTer5
XM_017027706.1:c.3594_3595del	XP_016883195.1:p.Met1198IlefsTer5
NM_015338.6:c.3747_3748del MANE Select	NP_056153.2:p.Met1249IlefsTer5