Canonical Allele Identifier: CA16042592
Gene: AUTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373078
ClinVar RCV Id: RCV000413601 RCV001706624
dbSNP Id: rs1057518198
MyVariant Identifiers: chr7:g.70229821del (hg19) chr7:g.70764835del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70764835del , CM000669.2:g.70764835del GRCh38
NC_000007.13:g.70229821del , CM000669.1:g.70229821del GRCh37
NC_000007.12:g.69867757del NCBI36
NG_034133.1:g.1170917del

Transcript Alleles

HGVS Amino-acid change
ENST00000342771.10:c.1298del MANE Select ENSP00000344087.4:p.Leu433ProfsTer?
ENST00000443672.2:c.-197-1279del ENSP00000393548.2:n.-197-1279del
ENST00000644359.1:c.-77del ENSP00000494561.1:n.-77del
ENST00000644506.1:c.-77del ENSP00000496672.1:n.-77del
ENST00000644939.1:c.1295del ENSP00000496726.1:p.Leu432ProfsTer?
ENST00000647140.1:c.142del
ENST00000656200.1:c.-77del ENSP00000499508.1:n.-77del
ENST00000342771.8:c.1298del ENSP00000344087.4:p.Leu433ProfsTer?
ENST00000406775.6:c.1298del ENSP00000385263.2:p.Leu433ProfsTer?
ENST00000611706.4:c.554del ENSP00000478134.1:p.Leu185ProfsTer?
ENST00000615871.4:c.554del ENSP00000479325.1:p.Leu185ProfsTer?
NM_001127231.2:c.1298del NP_001120703.1:p.Leu433ProfsTer?
NM_015570.3:c.1298del NP_056385.1:p.Leu433ProfsTer?
XM_005250257.1:c.-77del XP_005250314.1:n.-77del
XM_011516010.1:c.1298del XP_011514312.1:p.Leu433ProfsTer?
XM_011516011.1:c.1295del XP_011514313.1:p.Leu432ProfsTer?
XM_011516012.1:c.1298del XP_011514314.1:p.Leu433ProfsTer?
XM_011516013.1:c.1298del XP_011514315.1:p.Leu433ProfsTer?
XM_011516014.1:c.1298del XP_011514316.1:p.Leu433ProfsTer?
XM_011516015.1:c.1298del XP_011514317.1:p.Leu433ProfsTer?
XM_011516016.1:c.1007del XP_011514318.1:p.Leu336ProfsTer?
XM_011516017.1:c.824del XP_011514319.1:p.Leu275ProfsTer?
XM_011516018.1:c.797del XP_011514320.1:p.Leu266ProfsTer?
XM_005250257.2:c.-77del XP_005250314.1:n.-77del
XM_011516010.2:c.1298del XP_011514312.1:p.Leu433ProfsTer?
XM_011516011.2:c.1295del XP_011514313.1:p.Leu432ProfsTer?
XM_011516012.2:c.1298del XP_011514314.1:p.Leu433ProfsTer?
XM_011516013.2:c.1298del XP_011514315.1:p.Leu433ProfsTer?
XM_011516014.2:c.1298del XP_011514316.1:p.Leu433ProfsTer?
XM_011516017.2:c.824del XP_011514319.1:p.Leu275ProfsTer?
XM_011516018.2:c.797del XP_011514320.1:p.Leu266ProfsTer?
XM_017011951.2:c.1298del XP_016867440.1:p.Leu433ProfsTer?
NM_001127231.3:c.1298del NP_001120703.1:p.Leu433ProfsTer?
NM_015570.4:c.1298del MANE Select NP_056385.1:p.Leu433ProfsTer?
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