Canonical Allele Identifier: CA2776369919
Gene: AUTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777024_70777025insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA , CM000669.2:g.70777024_70777025insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA GRCh38
NC_000007.13:g.70242010_70242011insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA , CM000669.1:g.70242010_70242011insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA GRCh37
NC_000007.12:g.69879946_69879947insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA NCBI36
NG_034133.1:g.1183106_1183107insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000342771.10:c.1933-79_1933-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA MANE Select ENSP00000344087.4:n.1933-79_1933-78insGGCCACCGCGTGCAGCAGGGGTA...
ENST00000439256.2:c.31-79_31-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA ENSP00000407058.2:n.31-79_31-78insGGCCACCGCGTGCAGCAGGGGTAGCTG...
ENST00000443672.2:c.268-79_268-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA ENSP00000393548.2:n.268-79_268-78insGGCCACCGCGTGCAGCAGGGGTAGC...
ENST00000449547.6:c.26-79_26-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA
ENST00000464768.2:n.601-79_601-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA
ENST00000644359.1:c.514-79_514-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA ENSP00000494561.1:n.514-79_514-78insGGCCACCGCGTGCAGCAGGGGTAGC...
ENST00000644506.1:c.559-79_559-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA ENSP00000496672.1:n.559-79_559-78insGGCCACCGCGTGCAGCAGGGGTAGC...
ENST00000644939.1:c.1930-79_1930-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA ENSP00000496726.1:n.1930-79_1930-78insGGCCACCGCGTGCAGCAGGGGTA...
ENST00000644949.1:c.264-79_264-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA
ENST00000646136.1:n.244-79_244-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA
ENST00000647140.1:c.798-79_798-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA
ENST00000342771.8:c.1933-79_1933-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA ENSP00000344087.4:n.1933-79_1933-78insGGCCACCGCGTGCAGCAGGGGTA...
ENST00000406775.6:c.1861-79_1861-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA ENSP00000385263.2:n.1861-79_1861-78insGGCCACCGCGTGCAGCAGGGGTA...
ENST00000439256.1:c.31-79_31-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA
ENST00000443672.1:c.513-79_513-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA
ENST00000464768.1:n.599-79_599-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA
ENST00000465899.1:n.351_352insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA
ENST00000498384.5:n.301-79_301-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA
ENST00000611706.4:c.1189-79_1189-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA ENSP00000478134.1:n.1189-79_1189-78insGGCCACCGCGTGCAGCAGGGGTA...
ENST00000615871.4:c.1117-79_1117-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA ENSP00000479325.1:n.1117-79_1117-78insGGCCACCGCGTGCAGCAGGGGTA...
NM_001127231.2:c.1861-79_1861-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA NP_001120703.1:n.1861-79_1861-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
NM_015570.3:c.1933-79_1933-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA NP_056385.1:n.1933-79_1933-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCT...
XM_005250257.1:c.580-79_580-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_005250314.1:n.580-79_580-78insGGCCACCGCGTGCAGCAGGGGTAGCTGC...
XM_011516010.1:c.1954-79_1954-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514312.1:n.1954-79_1954-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516011.1:c.1951-79_1951-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514313.1:n.1951-79_1951-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516012.1:c.1888-79_1888-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514314.1:n.1888-79_1888-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516013.1:c.1882-79_1882-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514315.1:n.1882-79_1882-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516014.1:c.1852-79_1852-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514316.1:n.1852-79_1852-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516015.1:c.1690-79_1690-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514317.1:n.1690-79_1690-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516016.1:c.1663-79_1663-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514318.1:n.1663-79_1663-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516017.1:c.1480-79_1480-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514319.1:n.1480-79_1480-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516018.1:c.1453-79_1453-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514320.1:n.1453-79_1453-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_005250257.2:c.580-79_580-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_005250314.1:n.580-79_580-78insGGCCACCGCGTGCAGCAGGGGTAGCTGC...
XM_011516010.2:c.1954-79_1954-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514312.1:n.1954-79_1954-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516011.2:c.1951-79_1951-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514313.1:n.1951-79_1951-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516012.2:c.1888-79_1888-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514314.1:n.1888-79_1888-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516013.2:c.1882-79_1882-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514315.1:n.1882-79_1882-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516014.2:c.1852-79_1852-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514316.1:n.1852-79_1852-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516017.2:c.1480-79_1480-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514319.1:n.1480-79_1480-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_011516018.2:c.1453-79_1453-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_011514320.1:n.1453-79_1453-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
XM_017011951.2:c.1954-79_1954-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA XP_016867440.1:n.1954-79_1954-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
NM_001127231.3:c.1861-79_1861-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA NP_001120703.1:n.1861-79_1861-78insGGCCACCGCGTGCAGCAGGGGTAGCT...
NM_015570.4:c.1933-79_1933-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCTGGGTTAACAGCGGATCGTTAAACTGCGCCACCAACCTAA MANE Select NP_056385.1:n.1933-79_1933-78insGGCCACCGCGTGCAGCAGGGGTAGCTGCT...