Canonical Allele Identifier: CA2825002307
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3227435
ClinVar RCV Id: RCV004524553
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84839721_84839722delinsCA , CM000677.2:g.84839721_84839722delinsCA GRCh38
NC_000015.9:g.85382952_85382953delinsCA , CM000677.1:g.85382952_85382953delinsCA GRCh37
NC_000015.8:g.83183956_83183957delinsCA NCBI36
NG_054748.1:g.28091_28092delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.442_443delinsCA MANE Select ENSP00000258888.6:p.Ala148His
ENST00000258888.5:c.1048_1049delinsCA ENSP00000258888.5:p.Ala350His
NM_020778.4:c.1048_1049delinsCA NP_065829.3:p.Ala350His
NM_020778.5:c.442_443delinsCA MANE Select NP_065829.4:p.Ala148His
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