Canonical Allele Identifier: CA1169395

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 3021206
• ClinVar RCV Id: RCV003872349
• dbSNP Id: rs751037956
• ExAC: 1:156846017 C / CG
• gnomAD v2: 1-156846017-C-CG
• gnomAD v3: 1-156876225-C-CG
• gnomAD v4: 1-156876225-C-CG
• MyVariant Identifiers: chr1:g.156846018_156846019insG (hg19) ; chr1:g.156846017_156846018insG (hg19) ; chr1:g.156876226_156876227insG (hg38) ; chr1:g.156876225_156876226insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156876231dup , CM000663.2:g.156876231dup	GRCh38
NC_000001.10:g.156846023dup , CM000663.1:g.156846023dup	GRCh37
NC_000001.9:g.155112647dup	NCBI36
NG_007493.1:g.65482dup , LRG_261:g.65482dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674537.2:c.1452+21dup	ENSP00000502725.1:n.1452+21dup
ENST00000392302.7:c.1452+21dup	ENSP00000376120.3:n.1452+21dup
ENST00000497019.7:c.*224+21dup	ENSP00000436804.2:n.*224+21dup
ENST00000524377.7:c.1632+21dup MANE Select	ENSP00000431418.1:n.1632+21dup
ENST00000674537.1:c.1452+21dup	ENSP00000502725.1:n.1452+21dup
ENST00000358660.3:c.1623+21dup	ENSP00000351486.3:n.1623+21dup
ENST00000368196.7:c.1614+21dup	ENSP00000357179.3:n.1614+21dup
ENST00000392302.6:c.1524+21dup	ENSP00000376120.2:n.1524+21dup
ENST00000497019.6:c.*224+21dup	ENSP00000436804.1:n.*224+21dup
ENST00000524377.5:c.1632+21dup	ENSP00000431418.1:n.1632+21dup
ENST00000530298.5:n.2085+21dup
NM_001007792.1:c.1524+21dup , LRG_261t1:c.1524+21dup	NP_001007793.1:n.1524+21dup
NM_001012331.1:c.1614+21dup , LRG_261t2:c.1614+21dup	NP_001012331.1:n.1614+21dup
NM_002529.3:c.1632+21dup , LRG_261t3:c.1632+21dup	NP_002520.2:n.1632+21dup
NM_001012331.2:c.1614+21dup	NP_001012331.1:n.1614+21dup
NM_002529.4:c.1632+21dup MANE Select	NP_002520.2:n.1632+21dup