Canonical Allele Identifier: CA2538161313

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436455_32436458del , CM000682.2:g.32436455_32436458del	GRCh38
NC_000020.10:g.31024258_31024261del , CM000682.1:g.31024258_31024261del	GRCh37
NC_000020.9:g.30487919_30487922del	NCBI36
NG_027868.1:g.83112_83115del , LRG_630:g.83112_83115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3743_3746del MANE Select	ENSP00000364839.4:p.Ala1248GlyfsTer?
ENST00000646985.1:c.3560_3563del	ENSP00000495053.1:p.Ala1187GlyfsTer?
ENST00000647223.1:n.6096_6099del
ENST00000651418.1:c.1869+1874_1869+1877del	ENSP00000499150.1:n.1869+1874_1869+1877del
ENST00000306058.9:c.3728_3731del	ENSP00000305119.5:p.Ala1243GlyfsTer?
ENST00000375687.8:c.3743_3746del	ENSP00000364839.4:p.Ala1248GlyfsTer?
ENST00000613218.4:c.3743_3746del	ENSP00000480487.1:p.Ala1248GlyfsTer?
ENST00000620121.4:c.3743_3746del	ENSP00000481978.1:p.Ala1248GlyfsTer?
NM_015338.5:c.3743_3746del , LRG_630t1:c.3743_3746del	NP_056153.2:p.Ala1248GlyfsTer?
XM_006723727.2:c.3740_3743del	XP_006723790.1:p.Ala1247GlyfsTer?
XM_006723728.2:c.3713_3716del	XP_006723791.1:p.Ala1238GlyfsTer?
XM_006723730.2:c.3659_3662del	XP_006723793.1:p.Ala1220GlyfsTer?
XM_006723732.2:c.3560_3563del	XP_006723795.1:p.Ala1187GlyfsTer?
XM_006723733.1:c.3059_3062del	XP_006723796.1:p.Ala1020GlyfsTer?
XM_011528647.1:c.4007_4010del	XP_011526949.1:p.Ala1336GlyfsTer?
XM_011528648.1:c.4004_4007del	XP_011526950.1:p.Ala1335GlyfsTer?
XM_011528649.1:c.3923_3926del	XP_011526951.1:p.Ala1308GlyfsTer?
XM_011528650.1:c.3854_3857del	XP_011526952.1:p.Ala1285GlyfsTer?
XM_011528651.1:c.3722_3725del	XP_011526953.1:p.Ala1241GlyfsTer?
XM_011528652.1:c.3659_3662del	XP_011526954.1:p.Ala1220GlyfsTer?
NM_001363734.1:c.3560_3563del	NP_001350663.1:p.Ala1187GlyfsTer?
XM_006723727.3:c.3740_3743del	XP_006723790.1:p.Ala1247GlyfsTer?
XM_006723728.3:c.3713_3716del	XP_006723791.1:p.Ala1238GlyfsTer?
XM_006723730.4:c.3659_3662del	XP_006723793.1:p.Ala1220GlyfsTer?
XM_011528648.3:c.4004_4007del	XP_011526950.1:p.Ala1335GlyfsTer?
XM_011528652.2:c.3659_3662del	XP_011526954.1:p.Ala1220GlyfsTer?
XM_017027704.1:c.3659_3662del	XP_016883193.1:p.Ala1220GlyfsTer?
XM_017027705.1:c.3659_3662del	XP_016883194.1:p.Ala1220GlyfsTer?
XM_017027706.1:c.3590_3593del	XP_016883195.1:p.Ala1197GlyfsTer?
NM_015338.6:c.3743_3746del MANE Select	NP_056153.2:p.Ala1248GlyfsTer?