Canonical Allele Identifier: CA160034063

Gene: AUTS2

Linked Data

• dbSNP Id: rs970834802
• gnomAD v4: 7-70776959-T-TGG
• MyVariant Identifiers: chr7:g.70241945_70241946insGG (hg19) ; chr7:g.70776959_70776960insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70776960_70776961dup , CM000669.2:g.70776960_70776961dup	GRCh38
NC_000007.13:g.70241946_70241947dup , CM000669.1:g.70241946_70241947dup	GRCh37
NC_000007.12:g.69879882_69879883dup	NCBI36
NG_034133.1:g.1183042_1183043dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.1933-143_1933-142dup MANE Select	ENSP00000344087.4:n.1933-143_1933-142dup
ENST00000439256.2:c.31-143_31-142dup	ENSP00000407058.2:n.31-143_31-142dup
ENST00000443672.2:c.268-143_268-142dup	ENSP00000393548.2:n.268-143_268-142dup
ENST00000449547.6:c.26-143_26-142dup
ENST00000464768.2:n.601-143_601-142dup
ENST00000644359.1:c.514-143_514-142dup	ENSP00000494561.1:n.514-143_514-142dup
ENST00000644506.1:c.559-143_559-142dup	ENSP00000496672.1:n.559-143_559-142dup
ENST00000644939.1:c.1930-143_1930-142dup	ENSP00000496726.1:n.1930-143_1930-142dup
ENST00000644949.1:c.264-143_264-142dup
ENST00000646136.1:n.244-143_244-142dup
ENST00000647140.1:c.798-143_798-142dup
ENST00000342771.8:c.1933-143_1933-142dup	ENSP00000344087.4:n.1933-143_1933-142dup
ENST00000406775.6:c.1861-143_1861-142dup	ENSP00000385263.2:n.1861-143_1861-142dup
ENST00000439256.1:c.31-143_31-142dup
ENST00000443672.1:c.513-143_513-142dup
ENST00000464768.1:n.599-143_599-142dup
ENST00000465899.1:n.287_288dup
ENST00000498384.5:n.301-143_301-142dup
ENST00000611706.4:c.1189-143_1189-142dup	ENSP00000478134.1:n.1189-143_1189-142dup
ENST00000615871.4:c.1117-143_1117-142dup	ENSP00000479325.1:n.1117-143_1117-142dup
NM_001127231.2:c.1861-143_1861-142dup	NP_001120703.1:n.1861-143_1861-142dup
NM_015570.3:c.1933-143_1933-142dup	NP_056385.1:n.1933-143_1933-142dup
XM_005250257.1:c.580-143_580-142dup	XP_005250314.1:n.580-143_580-142dup
XM_011516010.1:c.1954-143_1954-142dup	XP_011514312.1:n.1954-143_1954-142dup
XM_011516011.1:c.1951-143_1951-142dup	XP_011514313.1:n.1951-143_1951-142dup
XM_011516012.1:c.1888-143_1888-142dup	XP_011514314.1:n.1888-143_1888-142dup
XM_011516013.1:c.1882-143_1882-142dup	XP_011514315.1:n.1882-143_1882-142dup
XM_011516014.1:c.1852-143_1852-142dup	XP_011514316.1:n.1852-143_1852-142dup
XM_011516015.1:c.1690-143_1690-142dup	XP_011514317.1:n.1690-143_1690-142dup
XM_011516016.1:c.1663-143_1663-142dup	XP_011514318.1:n.1663-143_1663-142dup
XM_011516017.1:c.1480-143_1480-142dup	XP_011514319.1:n.1480-143_1480-142dup
XM_011516018.1:c.1453-143_1453-142dup	XP_011514320.1:n.1453-143_1453-142dup
XM_005250257.2:c.580-143_580-142dup	XP_005250314.1:n.580-143_580-142dup
XM_011516010.2:c.1954-143_1954-142dup	XP_011514312.1:n.1954-143_1954-142dup
XM_011516011.2:c.1951-143_1951-142dup	XP_011514313.1:n.1951-143_1951-142dup
XM_011516012.2:c.1888-143_1888-142dup	XP_011514314.1:n.1888-143_1888-142dup
XM_011516013.2:c.1882-143_1882-142dup	XP_011514315.1:n.1882-143_1882-142dup
XM_011516014.2:c.1852-143_1852-142dup	XP_011514316.1:n.1852-143_1852-142dup
XM_011516017.2:c.1480-143_1480-142dup	XP_011514319.1:n.1480-143_1480-142dup
XM_011516018.2:c.1453-143_1453-142dup	XP_011514320.1:n.1453-143_1453-142dup
XM_017011951.2:c.1954-143_1954-142dup	XP_016867440.1:n.1954-143_1954-142dup
NM_001127231.3:c.1861-143_1861-142dup	NP_001120703.1:n.1861-143_1861-142dup
NM_015570.4:c.1933-143_1933-142dup MANE Select	NP_056385.1:n.1933-143_1933-142dup