Canonical Allele Identifier: CA658796937

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 521580
• ClinVar RCV Id: RCV000624759
• dbSNP Id: rs1554481768
• MyVariant Identifiers: chr7:g.70231225_70231254del (hg19) ; chr7:g.70766239_70766268del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766239_70766268del , CM000669.2:g.70766239_70766268del	GRCh38
NC_000007.13:g.70231225_70231254del , CM000669.1:g.70231225_70231254del	GRCh37
NC_000007.12:g.69869161_69869190del	NCBI36
NG_034133.1:g.1172321_1172350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1594_1623del MANE Select	ENSP00000344087.4:p.Gln532_His541del
ENST00000443672.2:c.-72_-43del	ENSP00000393548.2:n.-72_-43del
ENST00000644359.1:c.220_249del	ENSP00000494561.1:p.Gln74_His83del
ENST00000644506.1:c.220_249del	ENSP00000496672.1:p.Gln74_His83del
ENST00000644939.1:c.1591_1620del	ENSP00000496726.1:p.Gln531_His540del
ENST00000647140.1:c.438_467del
ENST00000656200.1:c.220_249del	ENSP00000499508.1:p.Gln74_His83del
ENST00000342771.8:c.1594_1623del	ENSP00000344087.4:p.Gln532_His541del
ENST00000406775.6:c.1594_1623del	ENSP00000385263.2:p.Gln532_His541del
ENST00000443672.1:c.219_248del
ENST00000481994.1:n.201_230del
ENST00000611706.4:c.850_879del	ENSP00000478134.1:p.Gln284_His293del
ENST00000615871.4:c.850_879del	ENSP00000479325.1:p.Gln284_His293del
NM_001127231.2:c.1594_1623del	NP_001120703.1:p.Gln532_His541del
NM_015570.3:c.1594_1623del	NP_056385.1:p.Gln532_His541del
XM_005250257.1:c.220_249del	XP_005250314.1:p.Gln74_His83del
XM_011516010.1:c.1594_1623del	XP_011514312.1:p.Gln532_His541del
XM_011516011.1:c.1591_1620del	XP_011514313.1:p.Gln531_His540del
XM_011516012.1:c.1594_1623del	XP_011514314.1:p.Gln532_His541del
XM_011516013.1:c.1594_1623del	XP_011514315.1:p.Gln532_His541del
XM_011516014.1:c.1594_1623del	XP_011514316.1:p.Gln532_His541del
XM_011516015.1:c.1594_1623del	XP_011514317.1:p.Gln532_His541del
XM_011516016.1:c.1303_1332del	XP_011514318.1:p.Gln435_His444del
XM_011516017.1:c.1120_1149del	XP_011514319.1:p.Gln374_His383del
XM_011516018.1:c.1093_1122del	XP_011514320.1:p.Gln365_His374del
XM_005250257.2:c.220_249del	XP_005250314.1:p.Gln74_His83del
XM_011516010.2:c.1594_1623del	XP_011514312.1:p.Gln532_His541del
XM_011516011.2:c.1591_1620del	XP_011514313.1:p.Gln531_His540del
XM_011516012.2:c.1594_1623del	XP_011514314.1:p.Gln532_His541del
XM_011516013.2:c.1594_1623del	XP_011514315.1:p.Gln532_His541del
XM_011516014.2:c.1594_1623del	XP_011514316.1:p.Gln532_His541del
XM_011516017.2:c.1120_1149del	XP_011514319.1:p.Gln374_His383del
XM_011516018.2:c.1093_1122del	XP_011514320.1:p.Gln365_His374del
XM_017011951.2:c.1594_1623del	XP_016867440.1:p.Gln532_His541del
NM_001127231.3:c.1594_1623del	NP_001120703.1:p.Gln532_His541del
NM_015570.4:c.1594_1623del MANE Select	NP_056385.1:p.Gln532_His541del