Canonical Allele Identifier: CA631095567
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1555740316
gnomAD v2: 19-2274947-A-AAG
gnomAD v3: 19-2274948-A-AAG
gnomAD v4: 19-2274948-A-AAG
MyVariant Identifiers: chr19:g.2274947_2274948insAG (hg19) chr19:g.2274948_2274949insAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274949_2274950insGA , CM000681.2:g.2274949_2274950insGA GRCh38
NC_000019.9:g.2274948_2274949insGA , CM000681.1:g.2274948_2274949insGA GRCh37
NC_000019.8:g.2225948_2225949insGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*731_*732insCT MANE Select ENSP00000345102.3:n.*731_*732insCT
ENST00000342063.4:c.*731_*732insCT ENSP00000345102.3:n.*731_*732insCT
ENST00000621615.1:c.146+5205_146+5206insGA ENSP00000481965.1:n.146+5205_146+5206insGA
NM_198532.2:c.*731_*732insCT NP_940934.1:n.*731_*732insCT
NM_198532.3:c.*731_*732insCT MANE Select NP_940934.1:n.*731_*732insCT
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