Canonical Allele Identifier: CA304236705
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs531838595
gnomAD v2: 19-2274686-CTG-C
gnomAD v3: 19-2274687-CTG-C
gnomAD v4: 19-2274687-CTG-C
MyVariant Identifiers: chr19:g.2274687_2274688del (hg19) chr19:g.2274688_2274689del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274689_2274690del , CM000681.2:g.2274689_2274690del GRCh38
NC_000019.9:g.2274688_2274689del , CM000681.1:g.2274688_2274689del GRCh37
NC_000019.8:g.2225688_2225689del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*991_*992del MANE Select ENSP00000345102.3:n.*991_*992del
ENST00000342063.4:c.*991_*992del ENSP00000345102.3:n.*991_*992del
ENST00000621615.1:c.146+4945_146+4946del ENSP00000481965.1:n.146+4945_146+4946del
NM_198532.2:c.*991_*992del NP_940934.1:n.*991_*992del
NM_198532.3:c.*991_*992del MANE Select NP_940934.1:n.*991_*992del
Search 100 bp 5'
Search 100 bp 3'