Canonical Allele Identifier: CA2683162475

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70777188-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777188_70777189insGA , CM000669.2:g.70777188_70777189insGA	GRCh38
NC_000007.13:g.70242174_70242175insGA , CM000669.1:g.70242174_70242175insGA	GRCh37
NC_000007.12:g.69880110_69880111insGA	NCBI36
NG_034133.1:g.1183270_1183271insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.72+14_72+15insGA	ENSP00000514784.1:n.72+14_72+15insGA
ENST00000342771.10:c.2004+14_2004+15insGA MANE Select	ENSP00000344087.4:n.2004+14_2004+15insGA
ENST00000439256.2:c.116_117insGA	ENSP00000407058.2:p.Phe39LeufsTer?
ENST00000443672.2:c.339+14_339+15insGA	ENSP00000393548.2:n.339+14_339+15insGA
ENST00000449547.6:c.97+14_97+15insGA
ENST00000464768.2:n.672+14_672+15insGA
ENST00000644359.1:c.585+14_585+15insGA	ENSP00000494561.1:n.585+14_585+15insGA
ENST00000644506.1:c.630+14_630+15insGA	ENSP00000496672.1:n.630+14_630+15insGA
ENST00000644939.1:c.2001+14_2001+15insGA	ENSP00000496726.1:n.2001+14_2001+15insGA
ENST00000646136.1:n.315+14_315+15insGA
ENST00000647140.1:c.869+14_869+15insGA
ENST00000342771.8:c.2004+14_2004+15insGA	ENSP00000344087.4:n.2004+14_2004+15insGA
ENST00000406775.6:c.1932+14_1932+15insGA	ENSP00000385263.2:n.1932+14_1932+15insGA
ENST00000439256.1:c.116_117insGA
ENST00000464768.1:n.670+14_670+15insGA
ENST00000465899.1:n.501+14_501+15insGA
ENST00000498384.5:n.372+14_372+15insGA
ENST00000611706.4:c.1260+14_1260+15insGA	ENSP00000478134.1:n.1260+14_1260+15insGA
ENST00000615871.4:c.1188+14_1188+15insGA	ENSP00000479325.1:n.1188+14_1188+15insGA
NM_001127231.2:c.1932+14_1932+15insGA	NP_001120703.1:n.1932+14_1932+15insGA
NM_015570.3:c.2004+14_2004+15insGA	NP_056385.1:n.2004+14_2004+15insGA
XM_005250257.1:c.651+14_651+15insGA	XP_005250314.1:n.651+14_651+15insGA
XM_011516010.1:c.2025+14_2025+15insGA	XP_011514312.1:n.2025+14_2025+15insGA
XM_011516011.1:c.2022+14_2022+15insGA	XP_011514313.1:n.2022+14_2022+15insGA
XM_011516012.1:c.1959+14_1959+15insGA	XP_011514314.1:n.1959+14_1959+15insGA
XM_011516013.1:c.1953+14_1953+15insGA	XP_011514315.1:n.1953+14_1953+15insGA
XM_011516014.1:c.1923+14_1923+15insGA	XP_011514316.1:n.1923+14_1923+15insGA
XM_011516015.1:c.1761+14_1761+15insGA	XP_011514317.1:n.1761+14_1761+15insGA
XM_011516016.1:c.1734+14_1734+15insGA	XP_011514318.1:n.1734+14_1734+15insGA
XM_011516017.1:c.1551+14_1551+15insGA	XP_011514319.1:n.1551+14_1551+15insGA
XM_011516018.1:c.1524+14_1524+15insGA	XP_011514320.1:n.1524+14_1524+15insGA
XM_005250257.2:c.651+14_651+15insGA	XP_005250314.1:n.651+14_651+15insGA
XM_011516010.2:c.2025+14_2025+15insGA	XP_011514312.1:n.2025+14_2025+15insGA
XM_011516011.2:c.2022+14_2022+15insGA	XP_011514313.1:n.2022+14_2022+15insGA
XM_011516012.2:c.1959+14_1959+15insGA	XP_011514314.1:n.1959+14_1959+15insGA
XM_011516013.2:c.1953+14_1953+15insGA	XP_011514315.1:n.1953+14_1953+15insGA
XM_011516014.2:c.1923+14_1923+15insGA	XP_011514316.1:n.1923+14_1923+15insGA
XM_011516017.2:c.1551+14_1551+15insGA	XP_011514319.1:n.1551+14_1551+15insGA
XM_011516018.2:c.1524+14_1524+15insGA	XP_011514320.1:n.1524+14_1524+15insGA
XM_017011951.2:c.2025+14_2025+15insGA	XP_016867440.1:n.2025+14_2025+15insGA
NM_001127231.3:c.1932+14_1932+15insGA	NP_001120703.1:n.1932+14_1932+15insGA
NM_015570.4:c.2004+14_2004+15insGA MANE Select	NP_056385.1:n.2004+14_2004+15insGA