Canonical Allele Identifier: CA9808965

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 548554
• ClinVar RCV Id: RCV000662077 ; RCV000662076 ; RCV002530591
• dbSNP Id: rs752856195
• ExAC: 20:31024623 GAGA / G
• gnomAD v2: 20-31024623-GAGA-G
• gnomAD v3: 20-32436820-GAGA-G
• gnomAD v4: 20-32436820-GAGA-G
• MyVariant Identifiers: chr20:g.31024627_31024629del (hg19) ; chr20:g.31024624_31024626del (hg19) ; chr20:g.32436824_32436826del (hg38) ; chr20:g.32436821_32436823del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436824_32436826del , CM000682.2:g.32436824_32436826del	GRCh38
NC_000020.10:g.31024627_31024629del , CM000682.1:g.31024627_31024629del	GRCh37
NC_000020.9:g.30488288_30488290del	NCBI36
NG_027868.1:g.83481_83483del , LRG_630:g.83481_83483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4112_4114del MANE Select	ENSP00000364839.4:p.Lys1371del
ENST00000646985.1:c.3929_3931del	ENSP00000495053.1:p.Lys1310del
ENST00000647223.1:n.6465_6467del
ENST00000651418.1:c.1870-1606_1870-1604del	ENSP00000499150.1:n.1870-1606_1870-1604del
ENST00000306058.9:c.4097_4099del	ENSP00000305119.5:p.Lys1366del
ENST00000375687.8:c.4112_4114del	ENSP00000364839.4:p.Lys1371del
ENST00000613218.4:c.4112_4114del	ENSP00000480487.1:p.Lys1371del
ENST00000620121.4:c.4112_4114del	ENSP00000481978.1:p.Lys1371del
NM_015338.5:c.4112_4114del , LRG_630t1:c.4112_4114del	NP_056153.2:p.Lys1371del
XM_006723727.2:c.4109_4111del	XP_006723790.1:p.Lys1370del
XM_006723728.2:c.4082_4084del	XP_006723791.1:p.Lys1361del
XM_006723730.2:c.4028_4030del	XP_006723793.1:p.Lys1343del
XM_006723732.2:c.3929_3931del	XP_006723795.1:p.Lys1310del
XM_006723733.1:c.3428_3430del	XP_006723796.1:p.Lys1143del
XM_011528647.1:c.4376_4378del	XP_011526949.1:p.Lys1459del
XM_011528648.1:c.4373_4375del	XP_011526950.1:p.Lys1458del
XM_011528649.1:c.4292_4294del	XP_011526951.1:p.Lys1431del
XM_011528650.1:c.4223_4225del	XP_011526952.1:p.Lys1408del
XM_011528651.1:c.4091_4093del	XP_011526953.1:p.Lys1364del
XM_011528652.1:c.4028_4030del	XP_011526954.1:p.Lys1343del
NM_001363734.1:c.3929_3931del	NP_001350663.1:p.Lys1310del
XM_006723727.3:c.4109_4111del	XP_006723790.1:p.Lys1370del
XM_006723728.3:c.4082_4084del	XP_006723791.1:p.Lys1361del
XM_006723730.4:c.4028_4030del	XP_006723793.1:p.Lys1343del
XM_011528648.3:c.4373_4375del	XP_011526950.1:p.Lys1458del
XM_011528652.2:c.4028_4030del	XP_011526954.1:p.Lys1343del
XM_017027704.1:c.4028_4030del	XP_016883193.1:p.Lys1343del
XM_017027705.1:c.4028_4030del	XP_016883194.1:p.Lys1343del
XM_017027706.1:c.3959_3961del	XP_016883195.1:p.Lys1320del
NM_015338.6:c.4112_4114del MANE Select	NP_056153.2:p.Lys1371del