Canonical Allele Identifier: CA2812055566

Gene: ASXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739371_33739372insAAGTTCACAAGCCAAGCCCTG , CM000680.2:g.33739371_33739372insAAGTTCACAAGCCAAGCCCTG	GRCh38
NC_000018.9:g.31319335_31319336insAAGTTCACAAGCCAAGCCCTG , CM000680.1:g.31319335_31319336insAAGTTCACAAGCCAAGCCCTG	GRCh37
NC_000018.8:g.29573333_29573334insAAGTTCACAAGCCAAGCCCTG	NCBI36
NG_055244.1:g.165795_165796insAAGTTCACAAGCCAAGCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1970_1971insAAGTTCACAAGCCAAGCCCTG	ENSP00000513003.1:p.Thr657_Glu658insSerSerGlnAlaLysProCys
ENST00000269197.12:c.1967_1968insAAGTTCACAAGCCAAGCCCTG MANE Select	ENSP00000269197.4:p.Thr656_Glu657insSerSerGlnAlaLysProCys
ENST00000592288.6:c.*1091_*1092insAAGTTCACAAGCCAAGCCCTG	ENSP00000465053.1:n.*1091_*1092insAAGTTCACAAGCCAAGCCCTG
ENST00000592541.6:c.*1626_*1627insAAGTTCACAAGCCAAGCCCTG	ENSP00000466655.2:n.*1626_*1627insAAGTTCACAAGCCAAGCCCTG
ENST00000593195.6:c.2179_2180insAAGTTCACAAGCCAAGCCCTG	ENSP00000466073.1:n.2179_2180insAAGTTCACAAGCCAAGCCCTG
ENST00000642541.1:c.1799_1800insAAGTTCACAAGCCAAGCCCTG	ENSP00000493665.1:p.Thr600_Glu601insSerSerGlnAlaLysProCys
ENST00000681521.1:c.1847_1848insAAGTTCACAAGCCAAGCCCTG	ENSP00000506037.1:p.Thr616_Glu617insSerSerGlnAlaLysProCys
ENST00000269197.9:c.1967_1968insAAGTTCACAAGCCAAGCCCTG	ENSP00000269197.4:p.Thr656_Glu657insSerSerGlnAlaLysProCys
ENST00000592288.5:c.*1091_*1092insAAGTTCACAAGCCAAGCCCTG	ENSP00000465053.1:n.*1091_*1092insAAGTTCACAAGCCAAGCCCTG
NM_030632.1:c.1967_1968insAAGTTCACAAGCCAAGCCCTG	NP_085135.1:p.Thr656_Glu657insSerSerGlnAlaLysProCys
XM_005258356.1:c.1970_1971insAAGTTCACAAGCCAAGCCCTG	XP_005258413.1:p.Thr657_Glu658insSerSerGlnAlaLysProCys
XM_011526205.1:c.1943_1944insAAGTTCACAAGCCAAGCCCTG	XP_011524507.1:p.Thr648_Glu649insSerSerGlnAlaLysProCys
XM_011526206.1:c.1889_1890insAAGTTCACAAGCCAAGCCCTG	XP_011524508.1:p.Thr630_Glu631insSerSerGlnAlaLysProCys
XM_011526207.1:c.1889_1890insAAGTTCACAAGCCAAGCCCTG	XP_011524509.1:p.Thr630_Glu631insSerSerGlnAlaLysProCys
XM_011526208.1:c.1850_1851insAAGTTCACAAGCCAAGCCCTG	XP_011524510.1:p.Thr617_Glu618insSerSerGlnAlaLysProCys
XM_011526209.1:c.1799_1800insAAGTTCACAAGCCAAGCCCTG	XP_011524511.1:p.Thr600_Glu601insSerSerGlnAlaLysProCys
XM_011526210.1:c.1799_1800insAAGTTCACAAGCCAAGCCCTG	XP_011524512.1:p.Thr600_Glu601insSerSerGlnAlaLysProCys
XM_011526211.1:c.1799_1800insAAGTTCACAAGCCAAGCCCTG	XP_011524513.1:p.Thr600_Glu601insSerSerGlnAlaLysProCys
XM_011526212.1:c.1799_1800insAAGTTCACAAGCCAAGCCCTG	XP_011524514.1:p.Thr600_Glu601insSerSerGlnAlaLysProCys
XM_011526213.1:c.1799_1800insAAGTTCACAAGCCAAGCCCTG	XP_011524515.1:p.Thr600_Glu601insSerSerGlnAlaLysProCys
XM_011526214.1:c.1799_1800insAAGTTCACAAGCCAAGCCCTG	XP_011524516.1:p.Thr600_Glu601insSerSerGlnAlaLysProCys
NM_030632.2:c.1967_1968insAAGTTCACAAGCCAAGCCCTG	NP_085135.1:p.Thr656_Glu657insSerSerGlnAlaLysProCys
XM_011526205.2:c.1943_1944insAAGTTCACAAGCCAAGCCCTG	XP_011524507.1:p.Thr648_Glu649insSerSerGlnAlaLysProCys
XM_011526206.2:c.1889_1890insAAGTTCACAAGCCAAGCCCTG	XP_011524508.1:p.Thr630_Glu631insSerSerGlnAlaLysProCys
XM_011526213.2:c.1799_1800insAAGTTCACAAGCCAAGCCCTG	XP_011524515.1:p.Thr600_Glu601insSerSerGlnAlaLysProCys
XM_017026012.1:c.1889_1890insAAGTTCACAAGCCAAGCCCTG	XP_016881501.1:p.Thr630_Glu631insSerSerGlnAlaLysProCys
XM_017026013.1:c.1799_1800insAAGTTCACAAGCCAAGCCCTG	XP_016881502.1:p.Thr600_Glu601insSerSerGlnAlaLysProCys
XM_017026014.2:c.1799_1800insAAGTTCACAAGCCAAGCCCTG	XP_016881503.1:p.Thr600_Glu601insSerSerGlnAlaLysProCys
XM_024451269.1:c.1799_1800insAAGTTCACAAGCCAAGCCCTG	XP_024307037.1:p.Thr600_Glu601insSerSerGlnAlaLysProCys
NM_030632.3:c.1967_1968insAAGTTCACAAGCCAAGCCCTG MANE Select	NP_085135.1:p.Thr656_Glu657insSerSerGlnAlaLysProCys