Canonical Allele Identifier: CA880699537
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1256656090
gnomAD v3: 19-2274929-CT-C
gnomAD v4: 19-2274929-CT-C
MyVariant Identifiers: chr19:g.2274929del (hg19) chr19:g.2274930del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274930del , CM000681.2:g.2274930del GRCh38
NC_000019.9:g.2274929del , CM000681.1:g.2274929del GRCh37
NC_000019.8:g.2225929del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*750del MANE Select ENSP00000345102.3:n.*750del
ENST00000342063.4:c.*750del ENSP00000345102.3:n.*750del
ENST00000621615.1:c.146+5186del ENSP00000481965.1:n.146+5186del
NM_198532.2:c.*750del NP_940934.1:n.*750del
NM_198532.3:c.*750del MANE Select NP_940934.1:n.*750del
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