Canonical Allele Identifier: CA2578902347

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777162_70777164dup , CM000669.2:g.70777162_70777164dup	GRCh38
NC_000007.13:g.70242148_70242150dup , CM000669.1:g.70242148_70242150dup	GRCh37
NC_000007.12:g.69880084_69880086dup	NCBI36
NG_034133.1:g.1183244_1183246dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.60_62dup	ENSP00000514784.1:p.Gln21_Lys22insGln
ENST00000342771.10:c.1992_1994dup MANE Select	ENSP00000344087.4:p.Gln665_Lys666insGln
ENST00000439256.2:c.90_92dup	ENSP00000407058.2:p.Gln31_Lys32insGln
ENST00000443672.2:c.327_329dup	ENSP00000393548.2:p.Gln110_Lys111insGln
ENST00000449547.6:c.85_87dup
ENST00000464768.2:n.660_662dup
ENST00000644359.1:c.573_575dup	ENSP00000494561.1:p.Gln192_Lys193insGln
ENST00000644506.1:c.618_620dup	ENSP00000496672.1:p.Gln207_Lys208insGln
ENST00000644939.1:c.1989_1991dup	ENSP00000496726.1:p.Gln664_Lys665insGln
ENST00000646136.1:n.303_305dup
ENST00000647140.1:c.857_859dup
ENST00000342771.8:c.1992_1994dup	ENSP00000344087.4:p.Gln665_Lys666insGln
ENST00000406775.6:c.1920_1922dup	ENSP00000385263.2:p.Gln641_Lys642insGln
ENST00000439256.1:c.90_92dup
ENST00000464768.1:n.658_660dup
ENST00000465899.1:n.489_491dup
ENST00000498384.5:n.360_362dup
ENST00000611706.4:c.1248_1250dup	ENSP00000478134.1:p.Gln417_Lys418insGln
ENST00000615871.4:c.1176_1178dup	ENSP00000479325.1:p.Gln393_Lys394insGln
NM_001127231.2:c.1920_1922dup	NP_001120703.1:p.Gln641_Lys642insGln
NM_015570.3:c.1992_1994dup	NP_056385.1:p.Gln665_Lys666insGln
XM_005250257.1:c.639_641dup	XP_005250314.1:p.Gln214_Lys215insGln
XM_011516010.1:c.2013_2015dup	XP_011514312.1:p.Gln672_Lys673insGln
XM_011516011.1:c.2010_2012dup	XP_011514313.1:p.Gln671_Lys672insGln
XM_011516012.1:c.1947_1949dup	XP_011514314.1:p.Gln650_Lys651insGln
XM_011516013.1:c.1941_1943dup	XP_011514315.1:p.Gln648_Lys649insGln
XM_011516014.1:c.1911_1913dup	XP_011514316.1:p.Gln638_Lys639insGln
XM_011516015.1:c.1749_1751dup	XP_011514317.1:p.Gln584_Lys585insGln
XM_011516016.1:c.1722_1724dup	XP_011514318.1:p.Gln575_Lys576insGln
XM_011516017.1:c.1539_1541dup	XP_011514319.1:p.Gln514_Lys515insGln
XM_011516018.1:c.1512_1514dup	XP_011514320.1:p.Gln505_Lys506insGln
XM_005250257.2:c.639_641dup	XP_005250314.1:p.Gln214_Lys215insGln
XM_011516010.2:c.2013_2015dup	XP_011514312.1:p.Gln672_Lys673insGln
XM_011516011.2:c.2010_2012dup	XP_011514313.1:p.Gln671_Lys672insGln
XM_011516012.2:c.1947_1949dup	XP_011514314.1:p.Gln650_Lys651insGln
XM_011516013.2:c.1941_1943dup	XP_011514315.1:p.Gln648_Lys649insGln
XM_011516014.2:c.1911_1913dup	XP_011514316.1:p.Gln638_Lys639insGln
XM_011516017.2:c.1539_1541dup	XP_011514319.1:p.Gln514_Lys515insGln
XM_011516018.2:c.1512_1514dup	XP_011514320.1:p.Gln505_Lys506insGln
XM_017011951.2:c.2013_2015dup	XP_016867440.1:p.Gln672_Lys673insGln
NM_001127231.3:c.1920_1922dup	NP_001120703.1:p.Gln641_Lys642insGln
NM_015570.4:c.1992_1994dup MANE Select	NP_056385.1:p.Gln665_Lys666insGln