Canonical Allele Identifier: CA2697554596
Gene: NTRK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2772649
ClinVar RCV Id: RCV003512792

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156881482_156881537del , CM000663.2:g.156881482_156881537del GRCh38
NC_000001.10:g.156851274_156851329del , CM000663.1:g.156851274_156851329del GRCh37
NC_000001.9:g.155117898_155117953del NCBI36
NG_007493.1:g.70733_70788del , LRG_261:g.70733_70788del

Transcript Alleles

HGVS Amino-acid change
ENST00000674537.2:c.2051_2106del ENSP00000502725.1:p.Arg684LeufsTer?
ENST00000392302.7:c.2051_2106del ENSP00000376120.3:p.Arg684LeufsTer?
ENST00000497019.7:c.*823_*878del ENSP00000436804.2:n.*823_*878del
ENST00000524377.7:c.2231_2286del MANE Select ENSP00000431418.1:p.Arg744LeufsTer?
ENST00000531606.2:c.290_345del
ENST00000674537.1:c.2051_2106del ENSP00000502725.1:p.Arg684LeufsTer?
ENST00000358660.3:c.2222_2277del ENSP00000351486.3:p.Arg741LeufsTer?
ENST00000368196.7:c.2213_2268del ENSP00000357179.3:p.Arg738LeufsTer?
ENST00000392302.6:c.2123_2178del ENSP00000376120.2:p.Arg708LeufsTer?
ENST00000497019.6:c.*823_*878del ENSP00000436804.1:n.*823_*878del
ENST00000524377.5:c.2231_2286del ENSP00000431418.1:p.Arg744LeufsTer?
ENST00000530298.5:n.2684_2739del
ENST00000531606.1:n.274_329del
NM_001007792.1:c.2123_2178del , LRG_261t1:c.2123_2178del NP_001007793.1:p.Arg708LeufsTer?
NM_001012331.1:c.2213_2268del , LRG_261t2:c.2213_2268del NP_001012331.1:p.Arg738LeufsTer?
NM_002529.3:c.2231_2286del , LRG_261t3:c.2231_2286del NP_002520.2:p.Arg744LeufsTer?
NM_001012331.2:c.2213_2268del NP_001012331.1:p.Arg738LeufsTer?
NM_002529.4:c.2231_2286del MANE Select NP_002520.2:p.Arg744LeufsTer?