Canonical Allele Identifier: CA2506693355

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75636516del , CM000678.2:g.75636516del	GRCh38
NC_000016.9:g.75670414del , CM000678.1:g.75670414del	GRCh37
NC_000016.8:g.74227915del	NCBI36
NG_028025.1:g.16174del , LRG_366:g.16174del

Transcript Alleles

HGVS	Amino-acid change
ENST00000302445.8:c.422del MANE Select	ENSP00000303043.3:p.Lys141SerfsTer12
ENST00000302445.7:c.422del	ENSP00000303043.3:p.Lys141SerfsTer12
ENST00000319410.9:c.506del	ENSP00000325448.5:p.Lys169SerfsTer12
ENST00000562875.5:c.223-416del	ENSP00000456185.1:n.223-416del
ENST00000564578.5:c.340del	ENSP00000455818.1:p.Ser114AlafsTer5
ENST00000566249.5:c.224del
ENST00000566560.5:n.536del
ENST00000568378.5:c.146+7769del	ENSP00000454512.1:n.146+7769del
ENST00000568682.5:c.-47del	ENSP00000462057.1:n.-47del
ENST00000570215.1:c.506del	ENSP00000458028.1:p.Lys169SerfsTer12
NM_001130089.1:c.506del , LRG_366t1:c.506del	NP_001123561.1:p.Lys169SerfsTer12
NM_005548.2:c.422del	NP_005539.1:p.Lys141SerfsTer12
XM_017023217.1:c.-47del	XP_016878706.1:n.-47del
NM_001130089.2:c.506del	NP_001123561.1:p.Lys169SerfsTer12
NM_001378148.1:c.-47del	NP_001365077.1:n.-47del
NM_005548.3:c.422del MANE Select	NP_005539.1:p.Lys141SerfsTer12