Canonical Allele Identifier: CA2545700921

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777336_70777340dup , CM000669.2:g.70777336_70777340dup	GRCh38
NC_000007.13:g.70242322_70242326dup , CM000669.1:g.70242322_70242326dup	GRCh37
NC_000007.12:g.69880258_69880262dup	NCBI36
NG_034133.1:g.1183418_1183422dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.72+162_72+166dup	ENSP00000514784.1:n.72+162_72+166dup
ENST00000342771.10:c.2004+162_2004+166dup MANE Select	ENSP00000344087.4:n.2004+162_2004+166dup
ENST00000439256.2:c.145+119_145+123dup	ENSP00000407058.2:n.145+119_145+123dup
ENST00000443672.2:c.339+162_339+166dup	ENSP00000393548.2:n.339+162_339+166dup
ENST00000449547.6:c.97+162_97+166dup
ENST00000464768.2:n.672+162_672+166dup
ENST00000644359.1:c.585+162_585+166dup	ENSP00000494561.1:n.585+162_585+166dup
ENST00000644506.1:c.630+162_630+166dup	ENSP00000496672.1:n.630+162_630+166dup
ENST00000644939.1:c.2001+162_2001+166dup	ENSP00000496726.1:n.2001+162_2001+166dup
ENST00000646136.1:n.315+162_315+166dup
ENST00000647140.1:c.869+162_869+166dup
ENST00000342771.8:c.2004+162_2004+166dup	ENSP00000344087.4:n.2004+162_2004+166dup
ENST00000406775.6:c.1932+162_1932+166dup	ENSP00000385263.2:n.1932+162_1932+166dup
ENST00000439256.1:c.145+119_145+123dup
ENST00000464768.1:n.670+162_670+166dup
ENST00000465899.1:n.501+162_501+166dup
ENST00000498384.5:n.372+162_372+166dup
ENST00000611706.4:c.1260+162_1260+166dup	ENSP00000478134.1:n.1260+162_1260+166dup
ENST00000615871.4:c.1188+162_1188+166dup	ENSP00000479325.1:n.1188+162_1188+166dup
NM_001127231.2:c.1932+162_1932+166dup	NP_001120703.1:n.1932+162_1932+166dup
NM_015570.3:c.2004+162_2004+166dup	NP_056385.1:n.2004+162_2004+166dup
XM_005250257.1:c.651+162_651+166dup	XP_005250314.1:n.651+162_651+166dup
XM_011516010.1:c.2025+162_2025+166dup	XP_011514312.1:n.2025+162_2025+166dup
XM_011516011.1:c.2022+162_2022+166dup	XP_011514313.1:n.2022+162_2022+166dup
XM_011516012.1:c.1959+162_1959+166dup	XP_011514314.1:n.1959+162_1959+166dup
XM_011516013.1:c.1953+162_1953+166dup	XP_011514315.1:n.1953+162_1953+166dup
XM_011516014.1:c.1923+162_1923+166dup	XP_011514316.1:n.1923+162_1923+166dup
XM_011516015.1:c.1761+162_1761+166dup	XP_011514317.1:n.1761+162_1761+166dup
XM_011516016.1:c.1734+162_1734+166dup	XP_011514318.1:n.1734+162_1734+166dup
XM_011516017.1:c.1551+162_1551+166dup	XP_011514319.1:n.1551+162_1551+166dup
XM_011516018.1:c.1524+162_1524+166dup	XP_011514320.1:n.1524+162_1524+166dup
XM_005250257.2:c.651+162_651+166dup	XP_005250314.1:n.651+162_651+166dup
XM_011516010.2:c.2025+162_2025+166dup	XP_011514312.1:n.2025+162_2025+166dup
XM_011516011.2:c.2022+162_2022+166dup	XP_011514313.1:n.2022+162_2022+166dup
XM_011516012.2:c.1959+162_1959+166dup	XP_011514314.1:n.1959+162_1959+166dup
XM_011516013.2:c.1953+162_1953+166dup	XP_011514315.1:n.1953+162_1953+166dup
XM_011516014.2:c.1923+162_1923+166dup	XP_011514316.1:n.1923+162_1923+166dup
XM_011516017.2:c.1551+162_1551+166dup	XP_011514319.1:n.1551+162_1551+166dup
XM_011516018.2:c.1524+162_1524+166dup	XP_011514320.1:n.1524+162_1524+166dup
XM_017011951.2:c.2025+162_2025+166dup	XP_016867440.1:n.2025+162_2025+166dup
NM_001127231.3:c.1932+162_1932+166dup	NP_001120703.1:n.1932+162_1932+166dup
NM_015570.4:c.2004+162_2004+166dup MANE Select	NP_056385.1:n.2004+162_2004+166dup