Canonical Allele Identifier: CA631095561
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1555740310
gnomAD v2: 19-2274946-A-AAG
gnomAD v3: 19-2274947-A-AAG
gnomAD v4: 19-2274947-A-AAG
MyVariant Identifiers: chr19:g.2274946_2274947insAG (hg19) chr19:g.2274947_2274948insAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274948_2274949insGA , CM000681.2:g.2274948_2274949insGA GRCh38
NC_000019.9:g.2274947_2274948insGA , CM000681.1:g.2274947_2274948insGA GRCh37
NC_000019.8:g.2225947_2225948insGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*732_*733insCT MANE Select ENSP00000345102.3:n.*732_*733insCT
ENST00000342063.4:c.*732_*733insCT ENSP00000345102.3:n.*732_*733insCT
ENST00000621615.1:c.146+5204_146+5205insGA ENSP00000481965.1:n.146+5204_146+5205insGA
NM_198532.2:c.*732_*733insCT NP_940934.1:n.*732_*733insCT
NM_198532.3:c.*732_*733insCT MANE Select NP_940934.1:n.*732_*733insCT
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