Canonical Allele Identifier: CA2652401180

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436019-GCCACTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436020_32436025del , CM000682.2:g.32436020_32436025del	GRCh38
NC_000020.10:g.31023823_31023828del , CM000682.1:g.31023823_31023828del	GRCh37
NC_000020.9:g.30487484_30487489del	NCBI36
NG_027868.1:g.82677_82682del , LRG_630:g.82677_82682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3308_3313del MANE Select	ENSP00000364839.4:p.Ala1103_Asn1105delinsAsp
ENST00000646985.1:c.3125_3130del	ENSP00000495053.1:p.Ala1042_Asn1044delinsAsp
ENST00000647223.1:n.5661_5666del
ENST00000651418.1:c.1869+1439_1869+1444del	ENSP00000499150.1:n.1869+1439_1869+1444del
ENST00000306058.9:c.3293_3298del	ENSP00000305119.5:p.Ala1098_Asn1100delinsAsp
ENST00000375687.8:c.3308_3313del	ENSP00000364839.4:p.Ala1103_Asn1105delinsAsp
ENST00000613218.4:c.3308_3313del	ENSP00000480487.1:p.Ala1103_Asn1105delinsAsp
ENST00000620121.4:c.3308_3313del	ENSP00000481978.1:p.Ala1103_Asn1105delinsAsp
NM_015338.5:c.3308_3313del , LRG_630t1:c.3308_3313del	NP_056153.2:p.Ala1103_Asn1105delinsAsp
XM_006723727.2:c.3305_3310del	XP_006723790.1:p.Ala1102_Asn1104delinsAsp
XM_006723728.2:c.3278_3283del	XP_006723791.1:p.Ala1093_Asn1095delinsAsp
XM_006723730.2:c.3224_3229del	XP_006723793.1:p.Ala1075_Asn1077delinsAsp
XM_006723732.2:c.3125_3130del	XP_006723795.1:p.Ala1042_Asn1044delinsAsp
XM_006723733.1:c.2624_2629del	XP_006723796.1:p.Ala875_Asn877delinsAsp
XM_011528647.1:c.3572_3577del	XP_011526949.1:p.Ala1191_Asn1193delinsAsp
XM_011528648.1:c.3569_3574del	XP_011526950.1:p.Ala1190_Asn1192delinsAsp
XM_011528649.1:c.3488_3493del	XP_011526951.1:p.Ala1163_Asn1165delinsAsp
XM_011528650.1:c.3419_3424del	XP_011526952.1:p.Ala1140_Asn1142delinsAsp
XM_011528651.1:c.3287_3292del	XP_011526953.1:p.Ala1096_Asn1098delinsAsp
XM_011528652.1:c.3224_3229del	XP_011526954.1:p.Ala1075_Asn1077delinsAsp
NM_001363734.1:c.3125_3130del	NP_001350663.1:p.Ala1042_Asn1044delinsAsp
XM_006723727.3:c.3305_3310del	XP_006723790.1:p.Ala1102_Asn1104delinsAsp
XM_006723728.3:c.3278_3283del	XP_006723791.1:p.Ala1093_Asn1095delinsAsp
XM_006723730.4:c.3224_3229del	XP_006723793.1:p.Ala1075_Asn1077delinsAsp
XM_011528648.3:c.3569_3574del	XP_011526950.1:p.Ala1190_Asn1192delinsAsp
XM_011528652.2:c.3224_3229del	XP_011526954.1:p.Ala1075_Asn1077delinsAsp
XM_017027704.1:c.3224_3229del	XP_016883193.1:p.Ala1075_Asn1077delinsAsp
XM_017027705.1:c.3224_3229del	XP_016883194.1:p.Ala1075_Asn1077delinsAsp
XM_017027706.1:c.3155_3160del	XP_016883195.1:p.Ala1052_Asn1054delinsAsp
NM_015338.6:c.3308_3313del MANE Select	NP_056153.2:p.Ala1103_Asn1105delinsAsp