Canonical Allele Identifier: CA2697554584
Gene: NTRK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2758668
ClinVar RCV Id: RCV003511938

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156860980_156861004del , CM000663.2:g.156860980_156861004del GRCh38
NC_000001.10:g.156830772_156830796del , CM000663.1:g.156830772_156830796del GRCh37
NC_000001.9:g.155097396_155097420del NCBI36
NG_007493.1:g.50231_50255del , LRG_261:g.50231_50255del

Transcript Alleles

HGVS Amino-acid Change
ENST00000674537.2:c.51-3374_51-3350del ENSP00000502725.1:n.51-3374_51-3350del
ENST00000392302.7:c.51-3374_51-3350del ENSP00000376120.3:n.51-3374_51-3350del
ENST00000497019.7:c.51-3374_51-3350del ENSP00000436804.2:n.51-3374_51-3350del
ENST00000524377.7:c.46_70del MANE Select ENSP00000431418.1:p.Ala16LeufsTer3
ENST00000674537.1:c.51-3374_51-3350del ENSP00000502725.1:n.51-3374_51-3350del
ENST00000675461.1:c.46_70del ENSP00000501668.1:p.Ala16LeufsTer3
ENST00000358660.3:c.46_70del ENSP00000351486.3:p.Ala16LeufsTer3
ENST00000368196.7:c.46_70del ENSP00000357179.3:p.Ala16LeufsTer3
ENST00000392302.6:c.123-3374_123-3350del ENSP00000376120.2:n.123-3374_123-3350del
ENST00000489021.6:n.313-12653_313-12629del
ENST00000497019.6:c.123-3374_123-3350del ENSP00000436804.1:n.123-3374_123-3350del
ENST00000524377.5:c.46_70del ENSP00000431418.1:p.Ala16LeufsTer3
ENST00000530298.5:n.271-3374_271-3350del
ENST00000533630.1:n.68_92del
NM_001007792.1:c.123-3374_123-3350del , LRG_261t1:c.123-3374_123-3350del NP_001007793.1:n.123-3374_123-3350del
NM_001012331.1:c.46_70del , LRG_261t2:c.46_70del NP_001012331.1:p.Ala16LeufsTer3
NM_002529.3:c.46_70del , LRG_261t3:c.46_70del NP_002520.2:p.Ala16LeufsTer3
NM_001012331.2:c.46_70del NP_001012331.1:p.Ala16LeufsTer3
NM_002529.4:c.46_70del MANE Select NP_002520.2:p.Ala16LeufsTer3