Canonical Allele Identifier: CA1716145059

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70776968_70776969delinsCT , CM000669.2:g.70776968_70776969delinsCT	GRCh38
NC_000007.13:g.70241954_70241955delinsCT , CM000669.1:g.70241954_70241955delinsCT	GRCh37
NC_000007.12:g.69879890_69879891delinsCT	NCBI36
NG_034133.1:g.1183050_1183051delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.1933-135_1933-134delinsCT MANE Select	ENSP00000344087.4:n.1933-135_1933-134deli...
ENST00000439256.2:c.31-135_31-134delinsCT	ENSP00000407058.2:n.31-135_31-134delinsCT...
ENST00000443672.2:c.268-135_268-134delinsCT	ENSP00000393548.2:n.268-135_268-134delins...
ENST00000449547.6:c.26-135_26-134delinsCT
ENST00000464768.2:n.601-135_601-134delinsCT
ENST00000644359.1:c.514-135_514-134delinsCT	ENSP00000494561.1:n.514-135_514-134delins...
ENST00000644506.1:c.559-135_559-134delinsCT	ENSP00000496672.1:n.559-135_559-134delins...
ENST00000644939.1:c.1930-135_1930-134delinsCT	ENSP00000496726.1:n.1930-135_1930-134deli...
ENST00000644949.1:c.264-135_264-134delinsCT
ENST00000646136.1:n.244-135_244-134delinsCT
ENST00000647140.1:c.798-135_798-134delinsCT
ENST00000342771.8:c.1933-135_1933-134delinsCT	ENSP00000344087.4:n.1933-135_1933-134deli...
ENST00000406775.6:c.1861-135_1861-134delinsCT	ENSP00000385263.2:n.1861-135_1861-134deli...
ENST00000439256.1:c.31-135_31-134delinsCT
ENST00000443672.1:c.513-135_513-134delinsCT
ENST00000464768.1:n.599-135_599-134delinsCT
ENST00000465899.1:n.295_296delinsCT
ENST00000498384.5:n.301-135_301-134delinsCT
ENST00000611706.4:c.1189-135_1189-134delinsCT	ENSP00000478134.1:n.1189-135_1189-134deli...
ENST00000615871.4:c.1117-135_1117-134delinsCT	ENSP00000479325.1:n.1117-135_1117-134deli...
NM_001127231.2:c.1861-135_1861-134delinsCT	NP_001120703.1:n.1861-135_1861-134delinsC...
NM_015570.3:c.1933-135_1933-134delinsCT	NP_056385.1:n.1933-135_1933-134delinsCT
XM_005250257.1:c.580-135_580-134delinsCT	XP_005250314.1:n.580-135_580-134delinsCT
XM_011516010.1:c.1954-135_1954-134delinsCT	XP_011514312.1:n.1954-135_1954-134delinsC...
XM_011516011.1:c.1951-135_1951-134delinsCT	XP_011514313.1:n.1951-135_1951-134delinsC...
XM_011516012.1:c.1888-135_1888-134delinsCT	XP_011514314.1:n.1888-135_1888-134delinsC...
XM_011516013.1:c.1882-135_1882-134delinsCT	XP_011514315.1:n.1882-135_1882-134delinsC...
XM_011516014.1:c.1852-135_1852-134delinsCT	XP_011514316.1:n.1852-135_1852-134delinsC...
XM_011516015.1:c.1690-135_1690-134delinsCT	XP_011514317.1:n.1690-135_1690-134delinsC...
XM_011516016.1:c.1663-135_1663-134delinsCT	XP_011514318.1:n.1663-135_1663-134delinsC...
XM_011516017.1:c.1480-135_1480-134delinsCT	XP_011514319.1:n.1480-135_1480-134delinsC...
XM_011516018.1:c.1453-135_1453-134delinsCT	XP_011514320.1:n.1453-135_1453-134delinsC...
XM_005250257.2:c.580-135_580-134delinsCT	XP_005250314.1:n.580-135_580-134delinsCT
XM_011516010.2:c.1954-135_1954-134delinsCT	XP_011514312.1:n.1954-135_1954-134delinsC...
XM_011516011.2:c.1951-135_1951-134delinsCT	XP_011514313.1:n.1951-135_1951-134delinsC...
XM_011516012.2:c.1888-135_1888-134delinsCT	XP_011514314.1:n.1888-135_1888-134delinsC...
XM_011516013.2:c.1882-135_1882-134delinsCT	XP_011514315.1:n.1882-135_1882-134delinsC...
XM_011516014.2:c.1852-135_1852-134delinsCT	XP_011514316.1:n.1852-135_1852-134delinsC...
XM_011516017.2:c.1480-135_1480-134delinsCT	XP_011514319.1:n.1480-135_1480-134delinsC...
XM_011516018.2:c.1453-135_1453-134delinsCT	XP_011514320.1:n.1453-135_1453-134delinsC...
XM_017011951.2:c.1954-135_1954-134delinsCT	XP_016867440.1:n.1954-135_1954-134delinsC...
NM_001127231.3:c.1861-135_1861-134delinsCT	NP_001120703.1:n.1861-135_1861-134delinsC...
NM_015570.4:c.1933-135_1933-134delinsCT MANE Select	NP_056385.1:n.1933-135_1933-134delinsCT