Canonical Allele Identifier: CA2580617853

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 2579592
• ClinVar RCV Id: RCV003328027

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777159_70777161del , CM000669.2:g.70777159_70777161del	GRCh38
NC_000007.13:g.70242145_70242147del , CM000669.1:g.70242145_70242147del	GRCh37
NC_000007.12:g.69880081_69880083del	NCBI36
NG_034133.1:g.1183241_1183243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.57_59del	ENSP00000514784.1:p.His19del
ENST00000342771.10:c.1989_1991del MANE Select	ENSP00000344087.4:p.His663del
ENST00000439256.2:c.87_89del	ENSP00000407058.2:p.His29del
ENST00000443672.2:c.324_326del	ENSP00000393548.2:p.His108del
ENST00000449547.6:c.82_84del
ENST00000464768.2:n.657_659del
ENST00000644359.1:c.570_572del	ENSP00000494561.1:p.His190del
ENST00000644506.1:c.615_617del	ENSP00000496672.1:p.His205del
ENST00000644939.1:c.1986_1988del	ENSP00000496726.1:p.His662del
ENST00000646136.1:n.300_302del
ENST00000647140.1:c.854_856del
ENST00000342771.8:c.1989_1991del	ENSP00000344087.4:p.His663del
ENST00000406775.6:c.1917_1919del	ENSP00000385263.2:p.His639del
ENST00000439256.1:c.87_89del
ENST00000464768.1:n.655_657del
ENST00000465899.1:n.486_488del
ENST00000498384.5:n.357_359del
ENST00000611706.4:c.1245_1247del	ENSP00000478134.1:p.His415del
ENST00000615871.4:c.1173_1175del	ENSP00000479325.1:p.His391del
NM_001127231.2:c.1917_1919del	NP_001120703.1:p.His639del
NM_015570.3:c.1989_1991del	NP_056385.1:p.His663del
XM_005250257.1:c.636_638del	XP_005250314.1:p.His212del
XM_011516010.1:c.2010_2012del	XP_011514312.1:p.His670del
XM_011516011.1:c.2007_2009del	XP_011514313.1:p.His669del
XM_011516012.1:c.1944_1946del	XP_011514314.1:p.His648del
XM_011516013.1:c.1938_1940del	XP_011514315.1:p.His646del
XM_011516014.1:c.1908_1910del	XP_011514316.1:p.His636del
XM_011516015.1:c.1746_1748del	XP_011514317.1:p.His582del
XM_011516016.1:c.1719_1721del	XP_011514318.1:p.His573del
XM_011516017.1:c.1536_1538del	XP_011514319.1:p.His512del
XM_011516018.1:c.1509_1511del	XP_011514320.1:p.His503del
XM_005250257.2:c.636_638del	XP_005250314.1:p.His212del
XM_011516010.2:c.2010_2012del	XP_011514312.1:p.His670del
XM_011516011.2:c.2007_2009del	XP_011514313.1:p.His669del
XM_011516012.2:c.1944_1946del	XP_011514314.1:p.His648del
XM_011516013.2:c.1938_1940del	XP_011514315.1:p.His646del
XM_011516014.2:c.1908_1910del	XP_011514316.1:p.His636del
XM_011516017.2:c.1536_1538del	XP_011514319.1:p.His512del
XM_011516018.2:c.1509_1511del	XP_011514320.1:p.His503del
XM_017011951.2:c.2010_2012del	XP_016867440.1:p.His670del
NM_001127231.3:c.1917_1919del	NP_001120703.1:p.His639del
NM_015570.4:c.1989_1991del MANE Select	NP_056385.1:p.His663del