Canonical Allele Identifier: CA304236957
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs59367985
gnomAD v2: 19-2274930-C-CAAAA
gnomAD v3: 19-2274931-C-CAAAA
gnomAD v4: 19-2274931-C-CAAAA
MyVariant Identifiers: chr19:g.2274933_2274934insAAAA (hg19) chr19:g.2274930_2274931insAAAA (hg19) chr19:g.2274934_2274935insAAAA (hg38) chr19:g.2274931_2274932insAAAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274950_2274953dup , CM000681.2:g.2274950_2274953dup GRCh38
NC_000019.9:g.2274949_2274952dup , CM000681.1:g.2274949_2274952dup GRCh37
NC_000019.8:g.2225949_2225952dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*745_*748dup MANE Select ENSP00000345102.3:n.*745_*748dup
ENST00000342063.4:c.*745_*748dup ENSP00000345102.3:n.*745_*748dup
ENST00000621615.1:c.146+5206_146+5209dup ENSP00000481965.1:n.146+5206_146+5209dup
NM_198532.2:c.*745_*748dup NP_940934.1:n.*745_*748dup
NM_198532.3:c.*745_*748dup MANE Select NP_940934.1:n.*745_*748dup
Search 100 bp 5'
Search 100 bp 3'