Canonical Allele Identifier: CA304236954
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1491358228
gnomAD v3: 19-2274930-TCA-T
gnomAD v4: 19-2274930-TCA-T
MyVariant Identifiers: chr19:g.2274930_2274931del (hg19) chr19:g.2274931_2274932del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274931_2274932del , CM000681.2:g.2274931_2274932del GRCh38
NC_000019.9:g.2274930_2274931del , CM000681.1:g.2274930_2274931del GRCh37
NC_000019.8:g.2225930_2225931del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*748_*749del MANE Select ENSP00000345102.3:n.*748_*749del
ENST00000342063.4:c.*748_*749del ENSP00000345102.3:n.*748_*749del
ENST00000621615.1:c.146+5187_146+5188del ENSP00000481965.1:n.146+5187_146+5188del
NM_198532.2:c.*748_*749del NP_940934.1:n.*748_*749del
NM_198532.3:c.*748_*749del MANE Select NP_940934.1:n.*748_*749del
Search 100 bp 5'
Search 100 bp 3'