Canonical Allele Identifier: CA2578902354
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777227_70777228del , CM000669.2:g.70777227_70777228del GRCh38
NC_000007.13:g.70242213_70242214del , CM000669.1:g.70242213_70242214del GRCh37
NC_000007.12:g.69880149_69880150del NCBI36
NG_034133.1:g.1183309_1183310del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700075.1:c.72+53_72+54del ENSP00000514784.1:n.72+53_72+54del
ENST00000342771.10:c.2004+53_2004+54del MANE Select ENSP00000344087.4:n.2004+53_2004+54del
ENST00000439256.2:c.145+10_145+11del ENSP00000407058.2:n.145+10_145+11del
ENST00000443672.2:c.339+53_339+54del ENSP00000393548.2:n.339+53_339+54del
ENST00000449547.6:c.97+53_97+54del
ENST00000464768.2:n.672+53_672+54del
ENST00000644359.1:c.585+53_585+54del ENSP00000494561.1:n.585+53_585+54del
ENST00000644506.1:c.630+53_630+54del ENSP00000496672.1:n.630+53_630+54del
ENST00000644939.1:c.2001+53_2001+54del ENSP00000496726.1:n.2001+53_2001+54del
ENST00000646136.1:n.315+53_315+54del
ENST00000647140.1:c.869+53_869+54del
ENST00000342771.8:c.2004+53_2004+54del ENSP00000344087.4:n.2004+53_2004+54del
ENST00000406775.6:c.1932+53_1932+54del ENSP00000385263.2:n.1932+53_1932+54del
ENST00000439256.1:c.145+10_145+11del
ENST00000464768.1:n.670+53_670+54del
ENST00000465899.1:n.501+53_501+54del
ENST00000498384.5:n.372+53_372+54del
ENST00000611706.4:c.1260+53_1260+54del ENSP00000478134.1:n.1260+53_1260+54del
ENST00000615871.4:c.1188+53_1188+54del ENSP00000479325.1:n.1188+53_1188+54del
NM_001127231.2:c.1932+53_1932+54del NP_001120703.1:n.1932+53_1932+54del
NM_015570.3:c.2004+53_2004+54del NP_056385.1:n.2004+53_2004+54del
XM_005250257.1:c.651+53_651+54del XP_005250314.1:n.651+53_651+54del
XM_011516010.1:c.2025+53_2025+54del XP_011514312.1:n.2025+53_2025+54del
XM_011516011.1:c.2022+53_2022+54del XP_011514313.1:n.2022+53_2022+54del
XM_011516012.1:c.1959+53_1959+54del XP_011514314.1:n.1959+53_1959+54del
XM_011516013.1:c.1953+53_1953+54del XP_011514315.1:n.1953+53_1953+54del
XM_011516014.1:c.1923+53_1923+54del XP_011514316.1:n.1923+53_1923+54del
XM_011516015.1:c.1761+53_1761+54del XP_011514317.1:n.1761+53_1761+54del
XM_011516016.1:c.1734+53_1734+54del XP_011514318.1:n.1734+53_1734+54del
XM_011516017.1:c.1551+53_1551+54del XP_011514319.1:n.1551+53_1551+54del
XM_011516018.1:c.1524+53_1524+54del XP_011514320.1:n.1524+53_1524+54del
XM_005250257.2:c.651+53_651+54del XP_005250314.1:n.651+53_651+54del
XM_011516010.2:c.2025+53_2025+54del XP_011514312.1:n.2025+53_2025+54del
XM_011516011.2:c.2022+53_2022+54del XP_011514313.1:n.2022+53_2022+54del
XM_011516012.2:c.1959+53_1959+54del XP_011514314.1:n.1959+53_1959+54del
XM_011516013.2:c.1953+53_1953+54del XP_011514315.1:n.1953+53_1953+54del
XM_011516014.2:c.1923+53_1923+54del XP_011514316.1:n.1923+53_1923+54del
XM_011516017.2:c.1551+53_1551+54del XP_011514319.1:n.1551+53_1551+54del
XM_011516018.2:c.1524+53_1524+54del XP_011514320.1:n.1524+53_1524+54del
XM_017011951.2:c.2025+53_2025+54del XP_016867440.1:n.2025+53_2025+54del
NM_001127231.3:c.1932+53_1932+54del NP_001120703.1:n.1932+53_1932+54del
NM_015570.4:c.2004+53_2004+54del MANE Select NP_056385.1:n.2004+53_2004+54del