Canonical Allele Identifier: CA2644702507

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780244-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780248_32780250del , CM000663.2:g.32780248_32780250del	GRCh38
NC_000001.10:g.33245849_33245851del , CM000663.1:g.33245849_33245851del	GRCh37
NC_000001.9:g.33018436_33018438del	NCBI36
NG_008408.1:g.42786_42788del , LRG_273:g.42786_42788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1025_1027del	ENSP00000502019.1:p.Lys342del
ENST00000373477.9:c.1172_1174del MANE Select	ENSP00000362576.4:p.Lys391del
ENST00000674629.1:c.*720_*722del	ENSP00000502470.1:n.*720_*722del
ENST00000674654.1:c.*1132_*1134del	ENSP00000501729.1:n.*1132_*1134del
ENST00000675785.1:c.1025_1027del	ENSP00000502019.1:p.Lys342del
ENST00000676297.1:c.*1346_*1348del	ENSP00000501596.1:n.*1346_*1348del
ENST00000373477.8:c.1172_1174del	ENSP00000362576.4:p.Lys391del
ENST00000469100.5:n.1088_1090del
ENST00000478828.1:n.639_641del
ENST00000487404.5:n.1482_1484del
ENST00000490826.1:n.465_467del
NM_003680.3:c.1172_1174del , LRG_273t1:c.1172_1174del	NP_003671.1:p.Lys391del
XM_011542347.1:c.542_544del	XP_011540649.1:p.Lys181del
XM_011542348.1:c.542_544del	XP_011540650.1:p.Lys181del
XM_011542347.2:c.542_544del	XP_011540649.1:p.Lys181del
XM_017002651.2:c.542_544del	XP_016858140.1:p.Lys181del
NM_003680.4:c.1172_1174del MANE Select	NP_003671.1:p.Lys391del