Canonical Allele Identifier: CA9808942

Gene: ASXL1

Linked Data

• dbSNP Id: rs755024604
• ExAC: 20:31024502 C / CA
• gnomAD v2: 20-31024502-C-CA
• gnomAD v4: 20-32436699-C-CA
• MyVariant Identifiers: chr20:g.31024502_31024503insA (hg19) ; chr20:g.32436699_32436700insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436699_32436700insA , CM000682.2:g.32436699_32436700insA	GRCh38
NC_000020.10:g.31024502_31024503insA , CM000682.1:g.31024502_31024503insA	GRCh37
NC_000020.9:g.30488163_30488164insA	NCBI36
NG_027868.1:g.83356_83357insA , LRG_630:g.83356_83357insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3987_3988insA MANE Select	ENSP00000364839.4:p.Pro1330ThrfsTer?
ENST00000646985.1:c.3804_3805insA	ENSP00000495053.1:p.Pro1269ThrfsTer?
ENST00000647223.1:n.6340_6341insA
ENST00000651418.1:c.1870-1731_1870-1730insA	ENSP00000499150.1:n.1870-1731_1870-1730insA
ENST00000306058.9:c.3972_3973insA	ENSP00000305119.5:p.Pro1325ThrfsTer?
ENST00000375687.8:c.3987_3988insA	ENSP00000364839.4:p.Pro1330ThrfsTer?
ENST00000613218.4:c.3987_3988insA	ENSP00000480487.1:p.Pro1330ThrfsTer?
ENST00000620121.4:c.3987_3988insA	ENSP00000481978.1:p.Pro1330ThrfsTer?
NM_015338.5:c.3987_3988insA , LRG_630t1:c.3987_3988insA	NP_056153.2:p.Pro1330ThrfsTer?
XM_006723727.2:c.3984_3985insA	XP_006723790.1:p.Pro1329ThrfsTer?
XM_006723728.2:c.3957_3958insA	XP_006723791.1:p.Pro1320ThrfsTer?
XM_006723730.2:c.3903_3904insA	XP_006723793.1:p.Pro1302ThrfsTer?
XM_006723732.2:c.3804_3805insA	XP_006723795.1:p.Pro1269ThrfsTer?
XM_006723733.1:c.3303_3304insA	XP_006723796.1:p.Pro1102ThrfsTer?
XM_011528647.1:c.4251_4252insA	XP_011526949.1:p.Pro1418ThrfsTer?
XM_011528648.1:c.4248_4249insA	XP_011526950.1:p.Pro1417ThrfsTer?
XM_011528649.1:c.4167_4168insA	XP_011526951.1:p.Pro1390ThrfsTer?
XM_011528650.1:c.4098_4099insA	XP_011526952.1:p.Pro1367ThrfsTer?
XM_011528651.1:c.3966_3967insA	XP_011526953.1:p.Pro1323ThrfsTer?
XM_011528652.1:c.3903_3904insA	XP_011526954.1:p.Pro1302ThrfsTer?
NM_001363734.1:c.3804_3805insA	NP_001350663.1:p.Pro1269ThrfsTer?
XM_006723727.3:c.3984_3985insA	XP_006723790.1:p.Pro1329ThrfsTer?
XM_006723728.3:c.3957_3958insA	XP_006723791.1:p.Pro1320ThrfsTer?
XM_006723730.4:c.3903_3904insA	XP_006723793.1:p.Pro1302ThrfsTer?
XM_011528648.3:c.4248_4249insA	XP_011526950.1:p.Pro1417ThrfsTer?
XM_011528652.2:c.3903_3904insA	XP_011526954.1:p.Pro1302ThrfsTer?
XM_017027704.1:c.3903_3904insA	XP_016883193.1:p.Pro1302ThrfsTer?
XM_017027705.1:c.3903_3904insA	XP_016883194.1:p.Pro1302ThrfsTer?
XM_017027706.1:c.3834_3835insA	XP_016883195.1:p.Pro1279ThrfsTer?
NM_015338.6:c.3987_3988insA MANE Select	NP_056153.2:p.Pro1330ThrfsTer?