Canonical Allele Identifier: CA2573052910

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 1334416
• ClinVar RCV Id: RCV001813923
• dbSNP Id: rs2129559195

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777165_70777166del , CM000669.2:g.70777165_70777166del	GRCh38
NC_000007.13:g.70242151_70242152del , CM000669.1:g.70242151_70242152del	GRCh37
NC_000007.12:g.69880087_69880088del	NCBI36
NG_034133.1:g.1183247_1183248del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.63_64del	ENSP00000514784.1:p.Lys22SerfsTer?
ENST00000342771.10:c.1995_1996del MANE Select	ENSP00000344087.4:p.Lys666SerfsTer11
ENST00000439256.2:c.93_94del	ENSP00000407058.2:p.Lys32SerfsTer?
ENST00000443672.2:c.330_331del	ENSP00000393548.2:p.Lys111SerfsTer11
ENST00000449547.6:c.88_89del
ENST00000464768.2:n.663_664del
ENST00000644359.1:c.576_577del	ENSP00000494561.1:p.Lys193SerfsTer11
ENST00000644506.1:c.621_622del	ENSP00000496672.1:p.Lys208SerfsTer11
ENST00000644939.1:c.1992_1993del	ENSP00000496726.1:p.Lys665SerfsTer11
ENST00000646136.1:n.306_307del
ENST00000647140.1:c.860_861del
ENST00000342771.8:c.1995_1996del	ENSP00000344087.4:p.Lys666SerfsTer11
ENST00000406775.6:c.1923_1924del	ENSP00000385263.2:p.Lys642SerfsTer11
ENST00000439256.1:c.93_94del
ENST00000464768.1:n.661_662del
ENST00000465899.1:n.492_493del
ENST00000498384.5:n.363_364del
ENST00000611706.4:c.1251_1252del	ENSP00000478134.1:p.Lys418SerfsTer11
ENST00000615871.4:c.1179_1180del	ENSP00000479325.1:p.Lys394SerfsTer11
NM_001127231.2:c.1923_1924del	NP_001120703.1:p.Lys642SerfsTer11
NM_015570.3:c.1995_1996del	NP_056385.1:p.Lys666SerfsTer11
XM_005250257.1:c.642_643del	XP_005250314.1:p.Lys215SerfsTer11
XM_011516010.1:c.2016_2017del	XP_011514312.1:p.Lys673SerfsTer11
XM_011516011.1:c.2013_2014del	XP_011514313.1:p.Lys672SerfsTer11
XM_011516012.1:c.1950_1951del	XP_011514314.1:p.Lys651SerfsTer11
XM_011516013.1:c.1944_1945del	XP_011514315.1:p.Lys649SerfsTer11
XM_011516014.1:c.1914_1915del	XP_011514316.1:p.Lys639SerfsTer11
XM_011516015.1:c.1752_1753del	XP_011514317.1:p.Lys585SerfsTer11
XM_011516016.1:c.1725_1726del	XP_011514318.1:p.Lys576SerfsTer11
XM_011516017.1:c.1542_1543del	XP_011514319.1:p.Lys515SerfsTer11
XM_011516018.1:c.1515_1516del	XP_011514320.1:p.Lys506SerfsTer11
XM_005250257.2:c.642_643del	XP_005250314.1:p.Lys215SerfsTer11
XM_011516010.2:c.2016_2017del	XP_011514312.1:p.Lys673SerfsTer11
XM_011516011.2:c.2013_2014del	XP_011514313.1:p.Lys672SerfsTer11
XM_011516012.2:c.1950_1951del	XP_011514314.1:p.Lys651SerfsTer11
XM_011516013.2:c.1944_1945del	XP_011514315.1:p.Lys649SerfsTer11
XM_011516014.2:c.1914_1915del	XP_011514316.1:p.Lys639SerfsTer11
XM_011516017.2:c.1542_1543del	XP_011514319.1:p.Lys515SerfsTer11
XM_011516018.2:c.1515_1516del	XP_011514320.1:p.Lys506SerfsTer11
XM_017011951.2:c.2016_2017del	XP_016867440.1:p.Lys673SerfsTer11
NM_001127231.3:c.1923_1924del	NP_001120703.1:p.Lys642SerfsTer11
NM_015570.4:c.1995_1996del MANE Select	NP_056385.1:p.Lys666SerfsTer11