Canonical Allele Identifier: CA2644702502

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780121-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780125_32780126del , CM000663.2:g.32780125_32780126del	GRCh38
NC_000001.10:g.33245726_33245727del , CM000663.1:g.33245726_33245727del	GRCh37
NC_000001.9:g.33018313_33018314del	NCBI36
NG_008408.1:g.42910_42911del , LRG_273:g.42910_42911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1149_1150del	ENSP00000502019.1:p.Gly384SerfsTer20
ENST00000373477.9:c.1296_1297del MANE Select	ENSP00000362576.4:p.Gly433SerfsTer20
ENST00000674629.1:c.*844_*845del	ENSP00000502470.1:n.*844_*845del
ENST00000674654.1:c.*1256_*1257del	ENSP00000501729.1:n.*1256_*1257del
ENST00000675785.1:c.1149_1150del	ENSP00000502019.1:p.Gly384SerfsTer20
ENST00000676297.1:c.*1470_*1471del	ENSP00000501596.1:n.*1470_*1471del
ENST00000373477.8:c.1296_1297del	ENSP00000362576.4:p.Gly433SerfsTer20
ENST00000469100.5:n.1212_1213del
ENST00000478828.1:n.763_764del
ENST00000487404.5:n.1606_1607del
ENST00000490826.1:n.589_590del
NM_003680.3:c.1296_1297del , LRG_273t1:c.1296_1297del	NP_003671.1:p.Gly433SerfsTer20
XM_011542347.1:c.666_667del	XP_011540649.1:p.Gly223SerfsTer20
XM_011542348.1:c.666_667del	XP_011540650.1:p.Gly223SerfsTer20
XM_011542347.2:c.666_667del	XP_011540649.1:p.Gly223SerfsTer20
XM_017002651.2:c.666_667del	XP_016858140.1:p.Gly223SerfsTer20
NM_003680.4:c.1296_1297del MANE Select	NP_003671.1:p.Gly433SerfsTer20