Canonical Allele Identifier: CA631095564
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1568406967
gnomAD v2: 19-2274947-A-AAAAAAG
gnomAD v3: 19-2274948-A-AAAAAAG
gnomAD v4: 19-2274948-A-AAAAAAG
MyVariant Identifiers: chr19:g.2274947_2274948insAAAAAG (hg19) chr19:g.2274948_2274949insAAAAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274958_2274963dup , CM000681.2:g.2274958_2274963dup GRCh38
NC_000019.9:g.2274957_2274962dup , CM000681.1:g.2274957_2274962dup GRCh37
NC_000019.8:g.2225957_2225962dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*726_*731dup MANE Select ENSP00000345102.3:n.*726_*731dup
ENST00000342063.4:c.*726_*731dup ENSP00000345102.3:n.*726_*731dup
ENST00000621615.1:c.146+5214_146+5219dup ENSP00000481965.1:n.146+5214_146+5219dup
NM_198532.2:c.*726_*731dup NP_940934.1:n.*726_*731dup
NM_198532.3:c.*726_*731dup MANE Select NP_940934.1:n.*726_*731dup
Search 100 bp 5'
Search 100 bp 3'