Canonical Allele Identifier: CA2583859230
Gene: PEAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-2275081-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2275081_2275082insC , CM000681.2:g.2275081_2275082insC GRCh38
NC_000019.9:g.2275080_2275081insC , CM000681.1:g.2275080_2275081insC GRCh37
NC_000019.8:g.2226080_2226081insC NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000342063.5:c.*598_*599insG MANE Select ENSP00000345102.3:n.*598_*599insG
ENST00000342063.4:c.*598_*599insG ENSP00000345102.3:n.*598_*599insG
ENST00000621615.1:c.146+5337_146+5338insC ENSP00000481965.1:n.146+5337_146+5338insC
NM_198532.2:c.*598_*599insG NP_940934.1:n.*598_*599insG
NM_198532.3:c.*598_*599insG MANE Select NP_940934.1:n.*598_*599insG
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