Canonical Allele Identifier: CA623371166

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75630494del , CM000678.2:g.75630494del	GRCh38
NC_000016.9:g.75664392del , CM000678.1:g.75664392del	GRCh37
NC_000016.8:g.74221893del	NCBI36
NG_028025.1:g.22195del , LRG_366:g.22195del

Transcript Alleles

HGVS	Amino-acid Change
NM_005548.3:c.1354del MANE Select	NP_005539.1:p.Leu452TrpfsTer3
ENST00000302445.8:c.1354del MANE Select	ENSP00000303043.3:p.Leu452TrpfsTer3
NM_001130089.1:c.1438del , LRG_366t1:c.1438del	NP_001123561.1:p.Leu480TrpfsTer3
NM_001130089.2:c.1438del	NP_001123561.1:p.Leu480TrpfsTer3
NM_001378148.1:c.886del	NP_001365077.1:p.Leu296TrpfsTer3
NM_005548.2:c.1354del	NP_005539.1:p.Leu452TrpfsTer3
ENST00000302445.7:c.1354del	ENSP00000303043.3:p.Leu452TrpfsTer3
ENST00000319410.9:c.1438del	ENSP00000325448.5:p.Leu480TrpfsTer3
ENST00000564578.5:c.*897del	ENSP00000455818.1:n.*897del
ENST00000568378.5:c.147-2504del	ENSP00000454512.1:n.147-2504del
XM_017023217.1:c.886del	XP_016878706.1:p.Leu296TrpfsTer3