Canonical Allele Identifier: CA645562313

Gene: AUTS2

Linked Data

• COSMIC: COSM5205965

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766153del , CM000669.2:g.70766153del	GRCh38
NC_000007.13:g.70231139del , CM000669.1:g.70231139del	GRCh37
NC_000007.12:g.69869075del	NCBI36
NG_034133.1:g.1172235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1508del MANE Select	ENSP00000344087.4:p.Leu503TrpfsTer?
ENST00000443672.2:c.-158del	ENSP00000393548.2:n.-158del
ENST00000644359.1:c.134del	ENSP00000494561.1:p.Leu45TrpfsTer?
ENST00000644506.1:c.134del	ENSP00000496672.1:p.Leu45TrpfsTer?
ENST00000644939.1:c.1505del	ENSP00000496726.1:p.Leu502TrpfsTer?
ENST00000647140.1:c.352del
ENST00000656200.1:c.134del	ENSP00000499508.1:p.Leu45TrpfsTer?
ENST00000342771.8:c.1508del	ENSP00000344087.4:p.Leu503TrpfsTer?
ENST00000406775.6:c.1508del	ENSP00000385263.2:p.Leu503TrpfsTer?
ENST00000443672.1:c.133del
ENST00000481994.1:n.115del
ENST00000611706.4:c.764del	ENSP00000478134.1:p.Leu255TrpfsTer?
ENST00000615871.4:c.764del	ENSP00000479325.1:p.Leu255TrpfsTer?
NM_001127231.2:c.1508del	NP_001120703.1:p.Leu503TrpfsTer?
NM_015570.3:c.1508del	NP_056385.1:p.Leu503TrpfsTer?
XM_005250257.1:c.134del	XP_005250314.1:p.Leu45TrpfsTer?
XM_011516010.1:c.1508del	XP_011514312.1:p.Leu503TrpfsTer?
XM_011516011.1:c.1505del	XP_011514313.1:p.Leu502TrpfsTer?
XM_011516012.1:c.1508del	XP_011514314.1:p.Leu503TrpfsTer?
XM_011516013.1:c.1508del	XP_011514315.1:p.Leu503TrpfsTer?
XM_011516014.1:c.1508del	XP_011514316.1:p.Leu503TrpfsTer?
XM_011516015.1:c.1508del	XP_011514317.1:p.Leu503TrpfsTer?
XM_011516016.1:c.1217del	XP_011514318.1:p.Leu406TrpfsTer?
XM_011516017.1:c.1034del	XP_011514319.1:p.Leu345TrpfsTer?
XM_011516018.1:c.1007del	XP_011514320.1:p.Leu336TrpfsTer?
XM_005250257.2:c.134del	XP_005250314.1:p.Leu45TrpfsTer?
XM_011516010.2:c.1508del	XP_011514312.1:p.Leu503TrpfsTer?
XM_011516011.2:c.1505del	XP_011514313.1:p.Leu502TrpfsTer?
XM_011516012.2:c.1508del	XP_011514314.1:p.Leu503TrpfsTer?
XM_011516013.2:c.1508del	XP_011514315.1:p.Leu503TrpfsTer?
XM_011516014.2:c.1508del	XP_011514316.1:p.Leu503TrpfsTer?
XM_011516017.2:c.1034del	XP_011514319.1:p.Leu345TrpfsTer?
XM_011516018.2:c.1007del	XP_011514320.1:p.Leu336TrpfsTer?
XM_017011951.2:c.1508del	XP_016867440.1:p.Leu503TrpfsTer?
NM_001127231.3:c.1508del	NP_001120703.1:p.Leu503TrpfsTer?
NM_015570.4:c.1508del MANE Select	NP_056385.1:p.Leu503TrpfsTer?