Canonical Allele Identifier: CA304236970
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs59367985
gnomAD v2: 19-2274930-CAA-C
gnomAD v3: 19-2274931-CAA-C
gnomAD v4: 19-2274931-CAA-C
MyVariant Identifiers: chr19:g.2274932_2274933del (hg19) chr19:g.2274931_2274932del (hg19) chr19:g.2274933_2274934del (hg38) chr19:g.2274932_2274933del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274952_2274953del , CM000681.2:g.2274952_2274953del GRCh38
NC_000019.9:g.2274951_2274952del , CM000681.1:g.2274951_2274952del GRCh37
NC_000019.8:g.2225951_2225952del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*747_*748del MANE Select ENSP00000345102.3:n.*747_*748del
ENST00000342063.4:c.*747_*748del ENSP00000345102.3:n.*747_*748del
ENST00000621615.1:c.146+5208_146+5209del ENSP00000481965.1:n.146+5208_146+5209del
NM_198532.2:c.*747_*748del NP_940934.1:n.*747_*748del
NM_198532.3:c.*747_*748del MANE Select NP_940934.1:n.*747_*748del
Search 100 bp 5'
Search 100 bp 3'