Canonical Allele Identifier: CA992609053
Gene: PEAK3 HGNC NCBI

Linked Data

gnomAD v3: 19-2274931-C-CAAAAAAAAAAAAAAAAA
gnomAD v4: 19-2274931-C-CAAAAAAAAAAAAAAAAA
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274937_2274953dup , CM000681.2:g.2274937_2274953dup GRCh38
NC_000019.9:g.2274936_2274952dup , CM000681.1:g.2274936_2274952dup GRCh37
NC_000019.8:g.2225936_2225952dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*732_*748dup MANE Select ENSP00000345102.3:n.*732_*748dup
ENST00000342063.4:c.*732_*748dup ENSP00000345102.3:n.*732_*748dup
ENST00000621615.1:c.146+5193_146+5209dup ENSP00000481965.1:n.146+5193_146+5209dup
NM_198532.2:c.*732_*748dup NP_940934.1:n.*732_*748dup
NM_198532.3:c.*732_*748dup MANE Select NP_940934.1:n.*732_*748dup
Search 100 bp 5'
Search 100 bp 3'