Canonical Allele Identifier: CA2580062687

Gene: YARS1

Linked Data

• ClinVar Variation Id: 1800082
• ClinVar RCV Id: RCV002460730

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780089_32780091del , CM000663.2:g.32780089_32780091del	GRCh38
NC_000001.10:g.33245690_33245692del , CM000663.1:g.33245690_33245692del	GRCh37
NC_000001.9:g.33018277_33018279del	NCBI36
NG_008408.1:g.42944_42946del , LRG_273:g.42944_42946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1183_1185del	ENSP00000502019.1:p.Ser395del
ENST00000373477.9:c.1330_1332del MANE Select	ENSP00000362576.4:p.Ser444del
ENST00000674629.1:c.*878_*880del	ENSP00000502470.1:n.*878_*880del
ENST00000674654.1:c.*1290_*1292del	ENSP00000501729.1:n.*1290_*1292del
ENST00000675785.1:c.1183_1185del	ENSP00000502019.1:p.Ser395del
ENST00000676297.1:c.*1504_*1506del	ENSP00000501596.1:n.*1504_*1506del
ENST00000373477.8:c.1330_1332del	ENSP00000362576.4:p.Ser444del
ENST00000469100.5:n.1246_1248del
ENST00000478828.1:n.797_799del
ENST00000487404.5:n.1640_1642del
ENST00000490826.1:n.623_625del
NM_003680.3:c.1330_1332del , LRG_273t1:c.1330_1332del	NP_003671.1:p.Ser444del
XM_011542347.1:c.700_702del	XP_011540649.1:p.Ser234del
XM_011542348.1:c.700_702del	XP_011540650.1:p.Ser234del
XM_011542347.2:c.700_702del	XP_011540649.1:p.Ser234del
XM_017002651.2:c.700_702del	XP_016858140.1:p.Ser234del
NM_003680.4:c.1330_1332del MANE Select	NP_003671.1:p.Ser444del