Canonical Allele Identifier: CA16620685
Gene: ASXL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 424009
ClinVar RCV Id: RCV000483981
dbSNP Id: rs1064796742
MyVariant Identifiers: chr18:g.31323137_31323138del (hg19) chr18:g.33743173_33743174del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33743173_33743174del , CM000680.2:g.33743173_33743174del GRCh38
NC_000018.9:g.31323137_31323138del , CM000680.1:g.31323137_31323138del GRCh37
NC_000018.8:g.29577135_29577136del NCBI36
NG_055244.1:g.169597_169598del

Transcript Alleles

HGVS Amino-acid change
ENST00000696964.1:c.3328_3329del ENSP00000513003.1:p.Lys1110AlafsTer16
ENST00000269197.12:c.3325_3326del MANE Select ENSP00000269197.4:p.Lys1109AlafsTer16
ENST00000592288.6:c.*2449_*2450del ENSP00000465053.1:n.*2449_*2450del
ENST00000592541.6:c.*2984_*2985del ENSP00000466655.2:n.*2984_*2985del
ENST00000593195.6:c.3537_3538del ENSP00000466073.1:n.3537_3538del
ENST00000642541.1:c.3157_3158del ENSP00000493665.1:p.Lys1053AlafsTer16
ENST00000681521.1:c.3205_3206del ENSP00000506037.1:p.Lys1069AlafsTer16
ENST00000269197.9:c.3325_3326del ENSP00000269197.4:p.Lys1109AlafsTer16
ENST00000592288.5:c.*2449_*2450del ENSP00000465053.1:n.*2449_*2450del
NM_030632.1:c.3325_3326del NP_085135.1:p.Lys1109AlafsTer16
XM_005258356.1:c.3328_3329del XP_005258413.1:p.Lys1110AlafsTer16
XM_011526205.1:c.3301_3302del XP_011524507.1:p.Lys1101AlafsTer16
XM_011526206.1:c.3247_3248del XP_011524508.1:p.Lys1083AlafsTer16
XM_011526207.1:c.3247_3248del XP_011524509.1:p.Lys1083AlafsTer16
XM_011526208.1:c.3208_3209del XP_011524510.1:p.Lys1070AlafsTer16
XM_011526209.1:c.3157_3158del XP_011524511.1:p.Lys1053AlafsTer16
XM_011526210.1:c.3157_3158del XP_011524512.1:p.Lys1053AlafsTer16
XM_011526211.1:c.3157_3158del XP_011524513.1:p.Lys1053AlafsTer16
XM_011526212.1:c.3157_3158del XP_011524514.1:p.Lys1053AlafsTer16
XM_011526213.1:c.3157_3158del XP_011524515.1:p.Lys1053AlafsTer16
XM_011526214.1:c.3157_3158del XP_011524516.1:p.Lys1053AlafsTer16
XM_011526215.1:c.289_290del XP_011524517.1:p.Lys97AlafsTer16
NM_030632.2:c.3325_3326del NP_085135.1:p.Lys1109AlafsTer16
XM_011526205.2:c.3301_3302del XP_011524507.1:p.Lys1101AlafsTer16
XM_011526206.2:c.3247_3248del XP_011524508.1:p.Lys1083AlafsTer16
XM_011526213.2:c.3157_3158del XP_011524515.1:p.Lys1053AlafsTer16
XM_017026012.1:c.3247_3248del XP_016881501.1:p.Lys1083AlafsTer16
XM_017026013.1:c.3157_3158del XP_016881502.1:p.Lys1053AlafsTer16
XM_017026014.2:c.3157_3158del XP_016881503.1:p.Lys1053AlafsTer16
XM_024451269.1:c.3157_3158del XP_024307037.1:p.Lys1053AlafsTer16
NM_030632.3:c.3325_3326del MANE Select NP_085135.1:p.Lys1109AlafsTer16
Search 100 bp 5'
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