Canonical Allele Identifier: CA1716145030

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70776939_70776963delinsGGGCGCTGGAGAGCTACTGATGGAA , CM000669.2:g.70776939_70776963delinsGGGCGCTGGAGAGCTACTGATGGAA	GRCh38
NC_000007.13:g.70241925_70241949delinsGGGCGCTGGAGAGCTACTGATGGAA , CM000669.1:g.70241925_70241949delinsGGGCGCTGGAGAGCTACTGATGGAA	GRCh37
NC_000007.12:g.69879861_69879885delinsGGGCGCTGGAGAGCTACTGATGGAA	NCBI36
NG_034133.1:g.1183021_1183045delinsGGGCGCTGGAGAGCTACTGATGGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.1933-164_1933-140delinsGGGCGCTGGAGAGCTACTGATGGAA MANE Select	ENSP00000344087.4:n.1933-164_1933-140delinsGGGCGCTGGAGAGCTACT...
ENST00000439256.2:c.31-164_31-140delinsGGGCGCTGGAGAGCTACTGATGGAA	ENSP00000407058.2:n.31-164_31-140delinsGGGCGCTGGAGAGCTACTGATG...
ENST00000443672.2:c.268-164_268-140delinsGGGCGCTGGAGAGCTACTGATGGAA	ENSP00000393548.2:n.268-164_268-140delinsGGGCGCTGGAGAGCTACTGA...
ENST00000449547.6:c.26-164_26-140delinsGGGCGCTGGAGAGCTACTGATGGAA
ENST00000464768.2:n.601-164_601-140delinsGGGCGCTGGAGAGCTACTGATGGAA
ENST00000644359.1:c.514-164_514-140delinsGGGCGCTGGAGAGCTACTGATGGAA	ENSP00000494561.1:n.514-164_514-140delinsGGGCGCTGGAGAGCTACTGA...
ENST00000644506.1:c.559-164_559-140delinsGGGCGCTGGAGAGCTACTGATGGAA	ENSP00000496672.1:n.559-164_559-140delinsGGGCGCTGGAGAGCTACTGA...
ENST00000644939.1:c.1930-164_1930-140delinsGGGCGCTGGAGAGCTACTGATGGAA	ENSP00000496726.1:n.1930-164_1930-140delinsGGGCGCTGGAGAGCTACT...
ENST00000644949.1:c.264-164_264-140delinsGGGCGCTGGAGAGCTACTGATGGAA
ENST00000646136.1:n.244-164_244-140delinsGGGCGCTGGAGAGCTACTGATGGAA
ENST00000647140.1:c.798-164_798-140delinsGGGCGCTGGAGAGCTACTGATGGAA
ENST00000342771.8:c.1933-164_1933-140delinsGGGCGCTGGAGAGCTACTGATGGAA	ENSP00000344087.4:n.1933-164_1933-140delinsGGGCGCTGGAGAGCTACT...
ENST00000406775.6:c.1861-164_1861-140delinsGGGCGCTGGAGAGCTACTGATGGAA	ENSP00000385263.2:n.1861-164_1861-140delinsGGGCGCTGGAGAGCTACT...
ENST00000439256.1:c.31-164_31-140delinsGGGCGCTGGAGAGCTACTGATGGAA
ENST00000443672.1:c.513-164_513-140delinsGGGCGCTGGAGAGCTACTGATGGAA
ENST00000464768.1:n.599-164_599-140delinsGGGCGCTGGAGAGCTACTGATGGAA
ENST00000465899.1:n.266_290delinsGGGCGCTGGAGAGCTACTGATGGAA
ENST00000498384.5:n.301-164_301-140delinsGGGCGCTGGAGAGCTACTGATGGAA
ENST00000611706.4:c.1189-164_1189-140delinsGGGCGCTGGAGAGCTACTGATGGAA	ENSP00000478134.1:n.1189-164_1189-140delinsGGGCGCTGGAGAGCTACT...
ENST00000615871.4:c.1117-164_1117-140delinsGGGCGCTGGAGAGCTACTGATGGAA	ENSP00000479325.1:n.1117-164_1117-140delinsGGGCGCTGGAGAGCTACT...
NM_001127231.2:c.1861-164_1861-140delinsGGGCGCTGGAGAGCTACTGATGGAA	NP_001120703.1:n.1861-164_1861-140delinsGGGCGCTGGAGAGCTACTGAT...
NM_015570.3:c.1933-164_1933-140delinsGGGCGCTGGAGAGCTACTGATGGAA	NP_056385.1:n.1933-164_1933-140delinsGGGCGCTGGAGAGCTACTGATGGA...
XM_005250257.1:c.580-164_580-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_005250314.1:n.580-164_580-140delinsGGGCGCTGGAGAGCTACTGATGG...
XM_011516010.1:c.1954-164_1954-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514312.1:n.1954-164_1954-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516011.1:c.1951-164_1951-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514313.1:n.1951-164_1951-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516012.1:c.1888-164_1888-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514314.1:n.1888-164_1888-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516013.1:c.1882-164_1882-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514315.1:n.1882-164_1882-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516014.1:c.1852-164_1852-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514316.1:n.1852-164_1852-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516015.1:c.1690-164_1690-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514317.1:n.1690-164_1690-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516016.1:c.1663-164_1663-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514318.1:n.1663-164_1663-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516017.1:c.1480-164_1480-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514319.1:n.1480-164_1480-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516018.1:c.1453-164_1453-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514320.1:n.1453-164_1453-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_005250257.2:c.580-164_580-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_005250314.1:n.580-164_580-140delinsGGGCGCTGGAGAGCTACTGATGG...
XM_011516010.2:c.1954-164_1954-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514312.1:n.1954-164_1954-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516011.2:c.1951-164_1951-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514313.1:n.1951-164_1951-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516012.2:c.1888-164_1888-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514314.1:n.1888-164_1888-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516013.2:c.1882-164_1882-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514315.1:n.1882-164_1882-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516014.2:c.1852-164_1852-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514316.1:n.1852-164_1852-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516017.2:c.1480-164_1480-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514319.1:n.1480-164_1480-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_011516018.2:c.1453-164_1453-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_011514320.1:n.1453-164_1453-140delinsGGGCGCTGGAGAGCTACTGAT...
XM_017011951.2:c.1954-164_1954-140delinsGGGCGCTGGAGAGCTACTGATGGAA	XP_016867440.1:n.1954-164_1954-140delinsGGGCGCTGGAGAGCTACTGAT...
NM_001127231.3:c.1861-164_1861-140delinsGGGCGCTGGAGAGCTACTGATGGAA	NP_001120703.1:n.1861-164_1861-140delinsGGGCGCTGGAGAGCTACTGAT...
NM_015570.4:c.1933-164_1933-140delinsGGGCGCTGGAGAGCTACTGATGGAA MANE Select	NP_056385.1:n.1933-164_1933-140delinsGGGCGCTGGAGAGCTACTGATGGA...