Canonical Allele Identifier: CA16618554
Gene: AUTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421993
ClinVar RCV Id: RCV000484146
dbSNP Id: rs1064795490
MyVariant Identifiers: chr7:g.70254831del (hg19) chr7:g.70789845del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70789845del , CM000669.2:g.70789845del GRCh38
NC_000007.13:g.70254831del , CM000669.1:g.70254831del GRCh37
NC_000007.12:g.69892767del NCBI36
NG_034133.1:g.1195927del

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.555del ENSP00000514784.1:n.555del
ENST00000342771.10:c.2629del MANE Select ENSP00000344087.4:p.Arg877GlyfsTer4
ENST00000449547.6:c.551del
ENST00000644359.1:c.1210del ENSP00000494561.1:p.Arg404GlyfsTer4
ENST00000644506.1:c.1255del ENSP00000496672.1:p.Arg419GlyfsTer4
ENST00000644939.1:c.2626del ENSP00000496726.1:p.Arg876GlyfsTer4
ENST00000646193.1:n.609del
ENST00000647140.1:c.1494del
ENST00000342771.8:c.2629del ENSP00000344087.4:p.Arg877GlyfsTer4
ENST00000406775.6:c.2557del ENSP00000385263.2:p.Arg853GlyfsTer4
ENST00000418686.1:c.469del ENSP00000392333.1:p.Arg157GlyfsTer4
ENST00000449547.5:c.426del
ENST00000611706.4:c.1885del ENSP00000478134.1:p.Arg629GlyfsTer4
ENST00000615871.4:c.1813del ENSP00000479325.1:p.Arg605GlyfsTer4
NM_001127231.2:c.2557del NP_001120703.1:p.Arg853GlyfsTer4
NM_015570.3:c.2629del NP_056385.1:p.Arg877GlyfsTer4
XM_005250257.1:c.1276del XP_005250314.1:p.Arg426GlyfsTer4
XM_011516010.1:c.2650del XP_011514312.1:p.Arg884GlyfsTer4
XM_011516011.1:c.2647del XP_011514313.1:p.Arg883GlyfsTer4
XM_011516012.1:c.2584del XP_011514314.1:p.Arg862GlyfsTer4
XM_011516013.1:c.2578del XP_011514315.1:p.Arg860GlyfsTer4
XM_011516014.1:c.2548del XP_011514316.1:p.Arg850GlyfsTer4
XM_011516015.1:c.2386del XP_011514317.1:p.Arg796GlyfsTer4
XM_011516016.1:c.2359del XP_011514318.1:p.Arg787GlyfsTer4
XM_011516017.1:c.2176del XP_011514319.1:p.Arg726GlyfsTer4
XM_011516018.1:c.2149del XP_011514320.1:p.Arg717GlyfsTer4
XM_005250257.2:c.1276del XP_005250314.1:p.Arg426GlyfsTer4
XM_011516010.2:c.2650del XP_011514312.1:p.Arg884GlyfsTer4
XM_011516011.2:c.2647del XP_011514313.1:p.Arg883GlyfsTer4
XM_011516012.2:c.2584del XP_011514314.1:p.Arg862GlyfsTer4
XM_011516013.2:c.2578del XP_011514315.1:p.Arg860GlyfsTer4
XM_011516014.2:c.2548del XP_011514316.1:p.Arg850GlyfsTer4
XM_011516017.2:c.2176del XP_011514319.1:p.Arg726GlyfsTer4
XM_011516018.2:c.2149del XP_011514320.1:p.Arg717GlyfsTer4
XM_017011951.2:c.*124del XP_016867440.1:n.*124del
NM_001127231.3:c.2557del NP_001120703.1:p.Arg853GlyfsTer4
NM_015570.4:c.2629del MANE Select NP_056385.1:p.Arg877GlyfsTer4
Search 100 bp 5'
Search 100 bp 3'