Canonical Allele Identifier: CA2580615898

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 2429961
• ClinVar RCV Id: RCV003127400

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70763110_70763111del , CM000669.2:g.70763110_70763111del	GRCh38
NC_000007.13:g.70228096_70228097del , CM000669.1:g.70228096_70228097del	GRCh37
NC_000007.12:g.69866032_69866033del	NCBI36
NG_034133.1:g.1169192_1169193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.983_984del MANE Select	ENSP00000344087.4:p.Thr328ArgfsTer19
ENST00000443672.2:c.-197-3004_-197-3003del	ENSP00000393548.2:n.-197-3004_-197-3003del
ENST00000644359.1:c.-389_-388del	ENSP00000494561.1:n.-389_-388del
ENST00000644506.1:c.-389_-388del	ENSP00000496672.1:n.-389_-388del
ENST00000644939.1:c.983_984del	ENSP00000496726.1:p.Thr328ArgfsTer19
ENST00000656200.1:c.-392_-391del	ENSP00000499508.1:n.-392_-391del
ENST00000342771.8:c.983_984del	ENSP00000344087.4:p.Thr328ArgfsTer19
ENST00000406775.6:c.983_984del	ENSP00000385263.2:p.Thr328ArgfsTer19
ENST00000416482.1:c.324_325del
ENST00000611706.4:c.239_240del	ENSP00000478134.1:p.Thr80ArgfsTer19
ENST00000615871.4:c.239_240del	ENSP00000479325.1:p.Thr80ArgfsTer19
NM_001127231.2:c.983_984del	NP_001120703.1:p.Thr328ArgfsTer19
NM_015570.3:c.983_984del	NP_056385.1:p.Thr328ArgfsTer19
XM_011516010.1:c.983_984del	XP_011514312.1:p.Thr328ArgfsTer19
XM_011516011.1:c.983_984del	XP_011514313.1:p.Thr328ArgfsTer19
XM_011516012.1:c.983_984del	XP_011514314.1:p.Thr328ArgfsTer19
XM_011516013.1:c.983_984del	XP_011514315.1:p.Thr328ArgfsTer19
XM_011516014.1:c.983_984del	XP_011514316.1:p.Thr328ArgfsTer19
XM_011516015.1:c.983_984del	XP_011514317.1:p.Thr328ArgfsTer19
XM_011516016.1:c.692_693del	XP_011514318.1:p.Thr231ArgfsTer19
XM_011516017.1:c.509_510del	XP_011514319.1:p.Thr170ArgfsTer19
XM_011516018.1:c.482_483del	XP_011514320.1:p.Thr161ArgfsTer19
XM_011516010.2:c.983_984del	XP_011514312.1:p.Thr328ArgfsTer19
XM_011516011.2:c.983_984del	XP_011514313.1:p.Thr328ArgfsTer19
XM_011516012.2:c.983_984del	XP_011514314.1:p.Thr328ArgfsTer19
XM_011516013.2:c.983_984del	XP_011514315.1:p.Thr328ArgfsTer19
XM_011516014.2:c.983_984del	XP_011514316.1:p.Thr328ArgfsTer19
XM_011516017.2:c.509_510del	XP_011514319.1:p.Thr170ArgfsTer19
XM_011516018.2:c.482_483del	XP_011514320.1:p.Thr161ArgfsTer19
XM_017011951.2:c.983_984del	XP_016867440.1:p.Thr328ArgfsTer19
NM_001127231.3:c.983_984del	NP_001120703.1:p.Thr328ArgfsTer19
NM_015570.4:c.983_984del MANE Select	NP_056385.1:p.Thr328ArgfsTer19