Canonical Allele Identifier: CA2683132651

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70762907-CAGCCAGGATGCAGGGCCGATTGTCCCCAAGATATCGGGTCTAGAGAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70762916_70762963del , CM000669.2:g.70762916_70762963del	GRCh38
NC_000007.13:g.70227902_70227949del , CM000669.1:g.70227902_70227949del	GRCh37
NC_000007.12:g.69865838_69865885del	NCBI36
NG_034133.1:g.1168998_1169045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.789_836del MANE Select	ENSP00000344087.4:p.Asp263_Gln278del
ENST00000443672.2:c.-197-3198_-197-3151del	ENSP00000393548.2:n.-197-3198_-197-3151del
ENST00000644359.1:c.-583_-536del	ENSP00000494561.1:n.-583_-536del
ENST00000644506.1:c.-583_-536del	ENSP00000496672.1:n.-583_-536del
ENST00000644939.1:c.789_836del	ENSP00000496726.1:p.Asp263_Gln278del
ENST00000656200.1:c.-586_-539del	ENSP00000499508.1:n.-586_-539del
ENST00000342771.8:c.789_836del	ENSP00000344087.4:p.Asp263_Gln278del
ENST00000406775.6:c.789_836del	ENSP00000385263.2:p.Asp263_Gln278del
ENST00000416482.1:c.130_177del
ENST00000611706.4:c.45_92del	ENSP00000478134.1:p.Asp15_Gln30del
ENST00000615871.4:c.45_92del	ENSP00000479325.1:p.Asp15_Gln30del
NM_001127231.2:c.789_836del	NP_001120703.1:p.Asp263_Gln278del
NM_015570.3:c.789_836del	NP_056385.1:p.Asp263_Gln278del
XM_011516010.1:c.789_836del	XP_011514312.1:p.Asp263_Gln278del
XM_011516011.1:c.789_836del	XP_011514313.1:p.Asp263_Gln278del
XM_011516012.1:c.789_836del	XP_011514314.1:p.Asp263_Gln278del
XM_011516013.1:c.789_836del	XP_011514315.1:p.Asp263_Gln278del
XM_011516014.1:c.789_836del	XP_011514316.1:p.Asp263_Gln278del
XM_011516015.1:c.789_836del	XP_011514317.1:p.Asp263_Gln278del
XM_011516016.1:c.498_545del	XP_011514318.1:p.Asp166_Gln181del
XM_011516017.1:c.315_362del	XP_011514319.1:p.Asp105_Gln120del
XM_011516018.1:c.288_335del	XP_011514320.1:p.Asp96_Gln111del
XM_011516010.2:c.789_836del	XP_011514312.1:p.Asp263_Gln278del
XM_011516011.2:c.789_836del	XP_011514313.1:p.Asp263_Gln278del
XM_011516012.2:c.789_836del	XP_011514314.1:p.Asp263_Gln278del
XM_011516013.2:c.789_836del	XP_011514315.1:p.Asp263_Gln278del
XM_011516014.2:c.789_836del	XP_011514316.1:p.Asp263_Gln278del
XM_011516017.2:c.315_362del	XP_011514319.1:p.Asp105_Gln120del
XM_011516018.2:c.288_335del	XP_011514320.1:p.Asp96_Gln111del
XM_017011951.2:c.789_836del	XP_016867440.1:p.Asp263_Gln278del
NM_001127231.3:c.789_836del	NP_001120703.1:p.Asp263_Gln278del
NM_015570.4:c.789_836del MANE Select	NP_056385.1:p.Asp263_Gln278del