Canonical Allele Identifier: CA2578902361
Gene: AUTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777262del , CM000669.2:g.70777262del GRCh38
NC_000007.13:g.70242248del , CM000669.1:g.70242248del GRCh37
NC_000007.12:g.69880184del NCBI36
NG_034133.1:g.1183344del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700075.1:c.72+88del ENSP00000514784.1:n.72+88del
ENST00000342771.10:c.2004+88del MANE Select ENSP00000344087.4:n.2004+88del
ENST00000439256.2:c.145+45del ENSP00000407058.2:n.145+45del
ENST00000443672.2:c.339+88del ENSP00000393548.2:n.339+88del
ENST00000449547.6:c.97+88del
ENST00000464768.2:n.672+88del
ENST00000644359.1:c.585+88del ENSP00000494561.1:n.585+88del
ENST00000644506.1:c.630+88del ENSP00000496672.1:n.630+88del
ENST00000644939.1:c.2001+88del ENSP00000496726.1:n.2001+88del
ENST00000646136.1:n.315+88del
ENST00000647140.1:c.869+88del
ENST00000342771.8:c.2004+88del ENSP00000344087.4:n.2004+88del
ENST00000406775.6:c.1932+88del ENSP00000385263.2:n.1932+88del
ENST00000439256.1:c.145+45del
ENST00000464768.1:n.670+88del
ENST00000465899.1:n.501+88del
ENST00000498384.5:n.372+88del
ENST00000611706.4:c.1260+88del ENSP00000478134.1:n.1260+88del
ENST00000615871.4:c.1188+88del ENSP00000479325.1:n.1188+88del
NM_001127231.2:c.1932+88del NP_001120703.1:n.1932+88del
NM_015570.3:c.2004+88del NP_056385.1:n.2004+88del
XM_005250257.1:c.651+88del XP_005250314.1:n.651+88del
XM_011516010.1:c.2025+88del XP_011514312.1:n.2025+88del
XM_011516011.1:c.2022+88del XP_011514313.1:n.2022+88del
XM_011516012.1:c.1959+88del XP_011514314.1:n.1959+88del
XM_011516013.1:c.1953+88del XP_011514315.1:n.1953+88del
XM_011516014.1:c.1923+88del XP_011514316.1:n.1923+88del
XM_011516015.1:c.1761+88del XP_011514317.1:n.1761+88del
XM_011516016.1:c.1734+88del XP_011514318.1:n.1734+88del
XM_011516017.1:c.1551+88del XP_011514319.1:n.1551+88del
XM_011516018.1:c.1524+88del XP_011514320.1:n.1524+88del
XM_005250257.2:c.651+88del XP_005250314.1:n.651+88del
XM_011516010.2:c.2025+88del XP_011514312.1:n.2025+88del
XM_011516011.2:c.2022+88del XP_011514313.1:n.2022+88del
XM_011516012.2:c.1959+88del XP_011514314.1:n.1959+88del
XM_011516013.2:c.1953+88del XP_011514315.1:n.1953+88del
XM_011516014.2:c.1923+88del XP_011514316.1:n.1923+88del
XM_011516017.2:c.1551+88del XP_011514319.1:n.1551+88del
XM_011516018.2:c.1524+88del XP_011514320.1:n.1524+88del
XM_017011951.2:c.2025+88del XP_016867440.1:n.2025+88del
NM_001127231.3:c.1932+88del NP_001120703.1:n.1932+88del
NM_015570.4:c.2004+88del MANE Select NP_056385.1:n.2004+88del