Canonical Allele Identifier: CA631095584
Gene: PEAK3 HGNC NCBI

Linked Data

gnomAD v2: 19-2274962-AGTG-A
gnomAD v3: 19-2274963-AGTG-A
gnomAD v4: 19-2274963-AGTG-A
MyVariant Identifiers: chr19:g.2274964_2274966del (hg19) chr19:g.2274965_2274967del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274965_2274967del , CM000681.2:g.2274965_2274967del GRCh38
NC_000019.9:g.2274964_2274966del , CM000681.1:g.2274964_2274966del GRCh37
NC_000019.8:g.2225964_2225966del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*714_*716del MANE Select ENSP00000345102.3:n.*714_*716del
ENST00000342063.4:c.*714_*716del ENSP00000345102.3:n.*714_*716del
ENST00000621615.1:c.146+5221_146+5223del ENSP00000481965.1:n.146+5221_146+5223del
NM_198532.2:c.*714_*716del NP_940934.1:n.*714_*716del
NM_198532.3:c.*714_*716del MANE Select NP_940934.1:n.*714_*716del
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Search 100 bp 3'