Canonical Allele Identifier: CA2683132652

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70762959-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70762962_70762964del , CM000669.2:g.70762962_70762964del	GRCh38
NC_000007.13:g.70227948_70227950del , CM000669.1:g.70227948_70227950del	GRCh37
NC_000007.12:g.69865884_69865886del	NCBI36
NG_034133.1:g.1169044_1169046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.835_837del MANE Select	ENSP00000344087.4:p.Glu279del
ENST00000443672.2:c.-197-3152_-197-3150del	ENSP00000393548.2:n.-197-3152_-197-3150del
ENST00000644359.1:c.-537_-535del	ENSP00000494561.1:n.-537_-535del
ENST00000644506.1:c.-537_-535del	ENSP00000496672.1:n.-537_-535del
ENST00000644939.1:c.835_837del	ENSP00000496726.1:p.Glu279del
ENST00000656200.1:c.-540_-538del	ENSP00000499508.1:n.-540_-538del
ENST00000342771.8:c.835_837del	ENSP00000344087.4:p.Glu279del
ENST00000406775.6:c.835_837del	ENSP00000385263.2:p.Glu279del
ENST00000416482.1:c.176_178del
ENST00000611706.4:c.91_93del	ENSP00000478134.1:p.Glu31del
ENST00000615871.4:c.91_93del	ENSP00000479325.1:p.Glu31del
NM_001127231.2:c.835_837del	NP_001120703.1:p.Glu279del
NM_015570.3:c.835_837del	NP_056385.1:p.Glu279del
XM_011516010.1:c.835_837del	XP_011514312.1:p.Glu279del
XM_011516011.1:c.835_837del	XP_011514313.1:p.Glu279del
XM_011516012.1:c.835_837del	XP_011514314.1:p.Glu279del
XM_011516013.1:c.835_837del	XP_011514315.1:p.Glu279del
XM_011516014.1:c.835_837del	XP_011514316.1:p.Glu279del
XM_011516015.1:c.835_837del	XP_011514317.1:p.Glu279del
XM_011516016.1:c.544_546del	XP_011514318.1:p.Glu182del
XM_011516017.1:c.361_363del	XP_011514319.1:p.Glu121del
XM_011516018.1:c.334_336del	XP_011514320.1:p.Glu112del
XM_011516010.2:c.835_837del	XP_011514312.1:p.Glu279del
XM_011516011.2:c.835_837del	XP_011514313.1:p.Glu279del
XM_011516012.2:c.835_837del	XP_011514314.1:p.Glu279del
XM_011516013.2:c.835_837del	XP_011514315.1:p.Glu279del
XM_011516014.2:c.835_837del	XP_011514316.1:p.Glu279del
XM_011516017.2:c.361_363del	XP_011514319.1:p.Glu121del
XM_011516018.2:c.334_336del	XP_011514320.1:p.Glu112del
XM_017011951.2:c.835_837del	XP_016867440.1:p.Glu279del
NM_001127231.3:c.835_837del	NP_001120703.1:p.Glu279del
NM_015570.4:c.835_837del MANE Select	NP_056385.1:p.Glu279del