Canonical Allele Identifier: CA631095573
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1414895288
gnomAD v2: 19-2274949-A-AAAAG
gnomAD v3: 19-2274950-A-AAAAG
gnomAD v4: 19-2274950-A-AAAAG
MyVariant Identifiers: chr19:g.2274949_2274950insAAAG (hg19) chr19:g.2274950_2274951insAAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274954_2274957dup , CM000681.2:g.2274954_2274957dup GRCh38
NC_000019.9:g.2274953_2274956dup , CM000681.1:g.2274953_2274956dup GRCh37
NC_000019.8:g.2225953_2225956dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*726_*729dup MANE Select ENSP00000345102.3:n.*726_*729dup
ENST00000342063.4:c.*726_*729dup ENSP00000345102.3:n.*726_*729dup
ENST00000621615.1:c.146+5210_146+5213dup ENSP00000481965.1:n.146+5210_146+5213dup
NM_198532.2:c.*726_*729dup NP_940934.1:n.*726_*729dup
NM_198532.3:c.*726_*729dup MANE Select NP_940934.1:n.*726_*729dup
Search 100 bp 5'
Search 100 bp 3'