Canonical Allele Identifier: CA16603224
Gene: AIMP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376970
ClinVar RCV Id: RCV000424729
dbSNP Id: rs1057520101

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.106328214_106328218del , CM000666.2:g.106328214_106328218del GRCh38
NC_000004.11:g.107249371_107249375del , CM000666.1:g.107249371_107249375del GRCh37
NC_000004.10:g.107468820_107468824del NCBI36
NG_028166.1:g.17605_17609del

Transcript Alleles

HGVS Amino-acid change
ENST00000394701.6:c.92_96del ENSP00000378191.5:p.Lys31SerfsTer6
ENST00000442366.6:c.223+650_223+654del ENSP00000405248.2:n.223+650_223+654del
ENST00000673381.2:n.1423_1427del
ENST00000683179.1:n.787_791del
ENST00000684504.1:c.362_366del ENSP00000507352.1:p.Lys121SerfsTer6
ENST00000394701.5:c.434_438del ENSP00000378191.4:p.Lys145SerfsTer6
ENST00000671868.1:c.362_366del ENSP00000499850.1:p.Lys121SerfsTer6
ENST00000671960.1:c.362_366del ENSP00000500025.1:p.Lys121SerfsTer6
ENST00000672003.1:c.362_366del ENSP00000500187.1:p.Lys121SerfsTer6
ENST00000672285.1:c.362_366del ENSP00000500668.1:p.Lys121SerfsTer6
ENST00000672328.1:c.362_366del ENSP00000500159.1:p.Lys121SerfsTer6
ENST00000672337.1:c.362_366del ENSP00000499921.1:p.Lys121SerfsTer6
ENST00000672341.1:c.362_366del MANE Select ENSP00000500620.1:p.Lys121SerfsTer6
ENST00000672911.1:c.362_366del ENSP00000500170.1:p.Lys121SerfsTer6
ENST00000673018.1:c.362_366del ENSP00000500732.1:p.Lys121SerfsTer6
ENST00000673123.1:c.362_366del ENSP00000500794.1:p.Lys121SerfsTer6
ENST00000358008.7:c.362_366del ENSP00000350699.3:p.Lys121SerfsTer6
ENST00000394701.4:c.434_438del ENSP00000378191.4:p.Lys145SerfsTer6
ENST00000442366.5:c.362_366del ENSP00000405248.1:p.Lys121SerfsTer6
ENST00000510207.5:c.362_366del ENSP00000423681.1:p.Lys121SerfsTer6
NM_001142415.1:c.362_366del NP_001135887.1:p.Lys121SerfsTer6
NM_001142416.1:c.434_438del NP_001135888.1:p.Lys145SerfsTer6
NM_004757.3:c.362_366del NP_004748.2:p.Lys121SerfsTer6
XM_017008835.2:c.362_366del XP_016864324.1:p.Lys121SerfsTer6
XM_017008836.2:c.362_366del XP_016864325.1:p.Lys121SerfsTer6
NM_001142416.2:c.362_366del MANE Select NP_001135888.2:p.Lys121SerfsTer6
NM_001142415.2:c.362_366del NP_001135887.1:p.Lys121SerfsTer6
NM_004757.4:c.362_366del NP_004748.2:p.Lys121SerfsTer6