Canonical Allele Identifier: CA2634034863

Gene: AARS1

Linked Data

• gnomAD v4: 16-70258052-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258053del , CM000678.2:g.70258053del	GRCh38
NC_000016.9:g.70291956del , CM000678.1:g.70291956del	GRCh37
NC_000016.8:g.68849457del	NCBI36
NG_023191.1:g.36457del , LRG_359:g.36457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2157del MANE Select	ENSP00000261772.8:p.Val720LeufsTer19
ENST00000564359.6:n.2150+927del
ENST00000565361.3:c.2157del	ENSP00000455360.3:p.Val720LeufsTer19
ENST00000674512.1:c.2136del	ENSP00000501613.1:p.Val713LeufsTer19
ENST00000674652.1:c.*1946del	ENSP00000502620.1:n.*1946del
ENST00000674691.1:c.2157del	ENSP00000502247.1:p.Val720LeufsTer19
ENST00000674768.1:c.*412del	ENSP00000501679.1:n.*412del
ENST00000674811.1:c.*350del	ENSP00000502055.1:n.*350del
ENST00000674848.1:n.2206del
ENST00000674962.1:n.2315del
ENST00000674963.1:c.2157del	ENSP00000501924.1:p.Val720LeufsTer19
ENST00000675035.1:c.2157del	ENSP00000502712.1:p.Ala720HisfsTer?
ENST00000675045.1:c.2184del	ENSP00000502014.1:p.Val729LeufsTer19
ENST00000675120.1:c.*467del	ENSP00000502823.1:n.*467del
ENST00000675133.1:c.2130del	ENSP00000502230.1:p.Val711LeufsTer19
ENST00000675270.1:n.2292del
ENST00000675297.1:c.*509del	ENSP00000502753.1:n.*509del
ENST00000675371.1:c.1992+927del	ENSP00000502645.1:n.1992+927del
ENST00000675403.1:n.3077del
ENST00000675569.1:c.*1391del	ENSP00000502534.1:n.*1391del
ENST00000675643.1:c.2157del	ENSP00000502797.1:p.Val720LeufsTer19
ENST00000675691.1:c.2028del	ENSP00000502196.1:p.Val677LeufsTer19
ENST00000675751.1:c.*1184del	ENSP00000502277.1:n.*1184del
ENST00000675853.1:c.2157del	ENSP00000502367.1:p.Val720LeufsTer19
ENST00000675917.1:n.2454del
ENST00000675953.1:c.2073del	ENSP00000502321.1:p.Val692LeufsTer19
ENST00000675986.1:n.2315del
ENST00000676004.1:c.*2156del	ENSP00000502765.1:n.*2156del
ENST00000676040.1:c.*1391del	ENSP00000502108.1:n.*1391del
ENST00000676168.1:c.1992+927del	ENSP00000502479.1:n.1992+927del
ENST00000676209.1:c.*509del	ENSP00000502052.1:n.*509del
ENST00000676211.1:c.*1184del	ENSP00000502726.1:n.*1184del
ENST00000676212.1:c.2157del	ENSP00000501853.1:p.Val720LeufsTer19
ENST00000676247.1:c.*509del	ENSP00000502699.1:n.*509del
ENST00000261772.12:c.2157del	ENSP00000261772.7:p.Val720LeufsTer19
ENST00000564359.5:n.488+927del
ENST00000565361.2:c.502del
ENST00000569825.1:n.163del
NM_001605.2:c.2157del , LRG_359t1:c.2157del	NP_001596.2:p.Val720LeufsTer19
XR_933220.1:n.2143+927del
XR_933220.3:n.2102+927del
NM_001605.3:c.2157del MANE Select	NP_001596.2:p.Val720LeufsTer19