Canonical Allele Identifier: CA2318218223
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2025365620
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274681_2274686del , CM000681.2:g.2274681_2274686del GRCh38
NC_000019.9:g.2274680_2274685del , CM000681.1:g.2274680_2274685del GRCh37
NC_000019.8:g.2225680_2225685del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*998_*1003del MANE Select ENSP00000345102.3:n.*998_*1003del
ENST00000342063.4:c.*998_*1003del ENSP00000345102.3:n.*998_*1003del
ENST00000621615.1:c.146+4937_146+4942del ENSP00000481965.1:n.146+4937_146+4942del
NM_198532.2:c.*998_*1003del NP_940934.1:n.*998_*1003del
NM_198532.3:c.*998_*1003del MANE Select NP_940934.1:n.*998_*1003del
Search 100 bp 5'
Search 100 bp 3'