Canonical Allele Identifier: CA1716145086

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70776974_70776975delinsGA , CM000669.2:g.70776974_70776975delinsGA	GRCh38
NC_000007.13:g.70241960_70241961delinsGA , CM000669.1:g.70241960_70241961delinsGA	GRCh37
NC_000007.12:g.69879896_69879897delinsGA	NCBI36
NG_034133.1:g.1183056_1183057delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.1933-129_1933-128delinsGA MANE Select	ENSP00000344087.4:n.1933-129_1933-128deli...
ENST00000439256.2:c.31-129_31-128delinsGA	ENSP00000407058.2:n.31-129_31-128delinsGA...
ENST00000443672.2:c.268-129_268-128delinsGA	ENSP00000393548.2:n.268-129_268-128delins...
ENST00000449547.6:c.26-129_26-128delinsGA
ENST00000464768.2:n.601-129_601-128delinsGA
ENST00000644359.1:c.514-129_514-128delinsGA	ENSP00000494561.1:n.514-129_514-128delins...
ENST00000644506.1:c.559-129_559-128delinsGA	ENSP00000496672.1:n.559-129_559-128delins...
ENST00000644939.1:c.1930-129_1930-128delinsGA	ENSP00000496726.1:n.1930-129_1930-128deli...
ENST00000644949.1:c.264-129_264-128delinsGA
ENST00000646136.1:n.244-129_244-128delinsGA
ENST00000647140.1:c.798-129_798-128delinsGA
ENST00000342771.8:c.1933-129_1933-128delinsGA	ENSP00000344087.4:n.1933-129_1933-128deli...
ENST00000406775.6:c.1861-129_1861-128delinsGA	ENSP00000385263.2:n.1861-129_1861-128deli...
ENST00000439256.1:c.31-129_31-128delinsGA
ENST00000443672.1:c.513-129_513-128delinsGA
ENST00000464768.1:n.599-129_599-128delinsGA
ENST00000465899.1:n.301_302delinsGA
ENST00000498384.5:n.301-129_301-128delinsGA
ENST00000611706.4:c.1189-129_1189-128delinsGA	ENSP00000478134.1:n.1189-129_1189-128deli...
ENST00000615871.4:c.1117-129_1117-128delinsGA	ENSP00000479325.1:n.1117-129_1117-128deli...
NM_001127231.2:c.1861-129_1861-128delinsGA	NP_001120703.1:n.1861-129_1861-128delinsG...
NM_015570.3:c.1933-129_1933-128delinsGA	NP_056385.1:n.1933-129_1933-128delinsGA
XM_005250257.1:c.580-129_580-128delinsGA	XP_005250314.1:n.580-129_580-128delinsGA
XM_011516010.1:c.1954-129_1954-128delinsGA	XP_011514312.1:n.1954-129_1954-128delinsG...
XM_011516011.1:c.1951-129_1951-128delinsGA	XP_011514313.1:n.1951-129_1951-128delinsG...
XM_011516012.1:c.1888-129_1888-128delinsGA	XP_011514314.1:n.1888-129_1888-128delinsG...
XM_011516013.1:c.1882-129_1882-128delinsGA	XP_011514315.1:n.1882-129_1882-128delinsG...
XM_011516014.1:c.1852-129_1852-128delinsGA	XP_011514316.1:n.1852-129_1852-128delinsG...
XM_011516015.1:c.1690-129_1690-128delinsGA	XP_011514317.1:n.1690-129_1690-128delinsG...
XM_011516016.1:c.1663-129_1663-128delinsGA	XP_011514318.1:n.1663-129_1663-128delinsG...
XM_011516017.1:c.1480-129_1480-128delinsGA	XP_011514319.1:n.1480-129_1480-128delinsG...
XM_011516018.1:c.1453-129_1453-128delinsGA	XP_011514320.1:n.1453-129_1453-128delinsG...
XM_005250257.2:c.580-129_580-128delinsGA	XP_005250314.1:n.580-129_580-128delinsGA
XM_011516010.2:c.1954-129_1954-128delinsGA	XP_011514312.1:n.1954-129_1954-128delinsG...
XM_011516011.2:c.1951-129_1951-128delinsGA	XP_011514313.1:n.1951-129_1951-128delinsG...
XM_011516012.2:c.1888-129_1888-128delinsGA	XP_011514314.1:n.1888-129_1888-128delinsG...
XM_011516013.2:c.1882-129_1882-128delinsGA	XP_011514315.1:n.1882-129_1882-128delinsG...
XM_011516014.2:c.1852-129_1852-128delinsGA	XP_011514316.1:n.1852-129_1852-128delinsG...
XM_011516017.2:c.1480-129_1480-128delinsGA	XP_011514319.1:n.1480-129_1480-128delinsG...
XM_011516018.2:c.1453-129_1453-128delinsGA	XP_011514320.1:n.1453-129_1453-128delinsG...
XM_017011951.2:c.1954-129_1954-128delinsGA	XP_016867440.1:n.1954-129_1954-128delinsG...
NM_001127231.3:c.1861-129_1861-128delinsGA	NP_001120703.1:n.1861-129_1861-128delinsG...
NM_015570.4:c.1933-129_1933-128delinsGA MANE Select	NP_056385.1:n.1933-129_1933-128delinsGA