Canonical Allele Identifier: CA2689402666
Gene: TYRP1 HGNC NCBI

Linked Data

gnomAD v4: 9-12695534-CTTAAGTAAAGAAGAAAAGAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12695535_12695554del , CM000671.2:g.12695535_12695554del GRCh38
NC_000009.11:g.12695535_12695554del , CM000671.1:g.12695535_12695554del GRCh37
NC_000009.10:g.12685535_12685554del NCBI36
NG_011705.1:g.7150_7169del

Transcript Alleles

HGVS Amino-acid change
ENST00000388918.10:c.406_425del MANE Select ENSP00000373570.4:p.Leu136ProfsTer?
ENST00000388918.9:c.406_425del ENSP00000373570.4:p.Leu136ProfsTer?
NM_000550.2:c.406_425del NP_000541.1:p.Leu136ProfsTer?
XR_001746372.2:n.595_614del
NM_000550.3:c.406_425del MANE Select NP_000541.1:p.Leu136ProfsTer?
Search 100 bp 5'
Search 100 bp 3'