Canonical Allele Identifier: CA2318218215
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2025365068
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274670_2274673del , CM000681.2:g.2274670_2274673del GRCh38
NC_000019.9:g.2274669_2274672del , CM000681.1:g.2274669_2274672del GRCh37
NC_000019.8:g.2225669_2225672del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*1010_*1013del MANE Select ENSP00000345102.3:n.*1010_*1013del
ENST00000342063.4:c.*1010_*1013del ENSP00000345102.3:n.*1010_*1013del
ENST00000621615.1:c.146+4926_146+4929del ENSP00000481965.1:n.146+4926_146+4929del
NM_198532.2:c.*1010_*1013del NP_940934.1:n.*1010_*1013del
NM_198532.3:c.*1010_*1013del MANE Select NP_940934.1:n.*1010_*1013del
Search 100 bp 5'
Search 100 bp 3'