Canonical Allele Identifier: CA10602964
Gene: AUTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 280471
ClinVar RCV Id: RCV000395175
dbSNP Id: rs886041671
MyVariant Identifiers: chr7:g.70228117dupC (hg19) chr7:g.70763131dupC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70763131dup , CM000669.2:g.70763131dup GRCh38
NC_000007.13:g.70228117dup , CM000669.1:g.70228117dup GRCh37
NC_000007.12:g.69866053dup NCBI36
NG_034133.1:g.1169213dup

Transcript Alleles

HGVS Amino-acid change
ENST00000342771.10:c.1004dup MANE Select ENSP00000344087.4:p.Pro336ThrfsTer12
ENST00000443672.2:c.-197-2983dup ENSP00000393548.2:n.-197-2983dup
ENST00000644359.1:c.-368dup ENSP00000494561.1:n.-368dup
ENST00000644506.1:c.-368dup ENSP00000496672.1:n.-368dup
ENST00000644939.1:c.1004dup ENSP00000496726.1:p.Pro336ThrfsTer12
ENST00000656200.1:c.-371dup ENSP00000499508.1:n.-371dup
ENST00000342771.8:c.1004dup ENSP00000344087.4:p.Pro336ThrfsTer12
ENST00000406775.6:c.1004dup ENSP00000385263.2:p.Pro336ThrfsTer12
ENST00000416482.1:c.345dup
ENST00000611706.4:c.260dup ENSP00000478134.1:p.Pro88ThrfsTer12
ENST00000615871.4:c.260dup ENSP00000479325.1:p.Pro88ThrfsTer12
NM_001127231.2:c.1004dup NP_001120703.1:p.Pro336ThrfsTer12
NM_015570.3:c.1004dup NP_056385.1:p.Pro336ThrfsTer12
XM_011516010.1:c.1004dup XP_011514312.1:p.Pro336ThrfsTer12
XM_011516011.1:c.1004dup XP_011514313.1:p.Pro336ThrfsTer12
XM_011516012.1:c.1004dup XP_011514314.1:p.Pro336ThrfsTer12
XM_011516013.1:c.1004dup XP_011514315.1:p.Pro336ThrfsTer12
XM_011516014.1:c.1004dup XP_011514316.1:p.Pro336ThrfsTer12
XM_011516015.1:c.1004dup XP_011514317.1:p.Pro336ThrfsTer12
XM_011516016.1:c.713dup XP_011514318.1:p.Pro239ThrfsTer12
XM_011516017.1:c.530dup XP_011514319.1:p.Pro178ThrfsTer12
XM_011516018.1:c.503dup XP_011514320.1:p.Pro169ThrfsTer12
XM_011516010.2:c.1004dup XP_011514312.1:p.Pro336ThrfsTer12
XM_011516011.2:c.1004dup XP_011514313.1:p.Pro336ThrfsTer12
XM_011516012.2:c.1004dup XP_011514314.1:p.Pro336ThrfsTer12
XM_011516013.2:c.1004dup XP_011514315.1:p.Pro336ThrfsTer12
XM_011516014.2:c.1004dup XP_011514316.1:p.Pro336ThrfsTer12
XM_011516017.2:c.530dup XP_011514319.1:p.Pro178ThrfsTer12
XM_011516018.2:c.503dup XP_011514320.1:p.Pro169ThrfsTer12
XM_017011951.2:c.1004dup XP_016867440.1:p.Pro336ThrfsTer12
NM_001127231.3:c.1004dup NP_001120703.1:p.Pro336ThrfsTer12
NM_015570.4:c.1004dup MANE Select NP_056385.1:p.Pro336ThrfsTer12
Search 100 bp 5'
Search 100 bp 3'