Canonical Allele Identifier: CA2573143525
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1510226
ClinVar RCV Id: RCV002043006
dbSNP Id: rs2118273418

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708142_12708145del , CM000671.2:g.12708142_12708145del GRCh38
NC_000009.11:g.12708142_12708145del , CM000671.1:g.12708142_12708145del GRCh37
NC_000009.10:g.12698142_12698145del NCBI36
NG_011705.1:g.19757_19760del

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1407_1408+2del (TYRP1)
ENST00000381136.2:c.537_538+2del (TYRP1)
ENST00000381142.3:n.499-835_499-832del (TYRP1)
ENST00000388918.9:c.1407_1408+2del (TYRP1)
ENST00000473504.1:n.472_473+2del (TYRP1)
NM_000550.2:c.1407_1408+2del (TYRP1)
NR_125775.1:n.317-7519_317-7516del (LURAP1L-AS1)
XR_001746372.2:n.1391_1392+2del (TYRP1)
NM_000550.3:c.1407_1408+2del (TYRP1)