Canonical Allele Identifier: CA2652401272

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436621-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436622del , CM000682.2:g.32436622del	GRCh38
NC_000020.10:g.31024425del , CM000682.1:g.31024425del	GRCh37
NC_000020.9:g.30488086del	NCBI36
NG_027868.1:g.83279del , LRG_630:g.83279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3910del MANE Select	ENSP00000364839.4:p.Leu1304PhefsTer?
ENST00000646985.1:c.3727del	ENSP00000495053.1:p.Leu1243PhefsTer?
ENST00000647223.1:n.6263del
ENST00000651418.1:c.1870-1808del	ENSP00000499150.1:n.1870-1808del
ENST00000306058.9:c.3895del	ENSP00000305119.5:p.Leu1299PhefsTer?
ENST00000375687.8:c.3910del	ENSP00000364839.4:p.Leu1304PhefsTer?
ENST00000613218.4:c.3910del	ENSP00000480487.1:p.Leu1304PhefsTer?
ENST00000620121.4:c.3910del	ENSP00000481978.1:p.Leu1304PhefsTer?
NM_015338.5:c.3910del , LRG_630t1:c.3910del	NP_056153.2:p.Leu1304PhefsTer?
XM_006723727.2:c.3907del	XP_006723790.1:p.Leu1303PhefsTer?
XM_006723728.2:c.3880del	XP_006723791.1:p.Leu1294PhefsTer?
XM_006723730.2:c.3826del	XP_006723793.1:p.Leu1276PhefsTer?
XM_006723732.2:c.3727del	XP_006723795.1:p.Leu1243PhefsTer?
XM_006723733.1:c.3226del	XP_006723796.1:p.Leu1076PhefsTer?
XM_011528647.1:c.4174del	XP_011526949.1:p.Leu1392PhefsTer?
XM_011528648.1:c.4171del	XP_011526950.1:p.Leu1391PhefsTer?
XM_011528649.1:c.4090del	XP_011526951.1:p.Leu1364PhefsTer?
XM_011528650.1:c.4021del	XP_011526952.1:p.Leu1341PhefsTer?
XM_011528651.1:c.3889del	XP_011526953.1:p.Leu1297PhefsTer?
XM_011528652.1:c.3826del	XP_011526954.1:p.Leu1276PhefsTer?
NM_001363734.1:c.3727del	NP_001350663.1:p.Leu1243PhefsTer?
XM_006723727.3:c.3907del	XP_006723790.1:p.Leu1303PhefsTer?
XM_006723728.3:c.3880del	XP_006723791.1:p.Leu1294PhefsTer?
XM_006723730.4:c.3826del	XP_006723793.1:p.Leu1276PhefsTer?
XM_011528648.3:c.4171del	XP_011526950.1:p.Leu1391PhefsTer?
XM_011528652.2:c.3826del	XP_011526954.1:p.Leu1276PhefsTer?
XM_017027704.1:c.3826del	XP_016883193.1:p.Leu1276PhefsTer?
XM_017027705.1:c.3826del	XP_016883194.1:p.Leu1276PhefsTer?
XM_017027706.1:c.3757del	XP_016883195.1:p.Leu1253PhefsTer?
NM_015338.6:c.3910del MANE Select	NP_056153.2:p.Leu1304PhefsTer?