Canonical Allele Identifier: CA749584571
Gene: SIK1 HGNC NCBI

Linked Data

dbSNP Id: rs1195615856
gnomAD v3: 21-43416598-CAAAAAT-C
gnomAD v4: 21-43416598-CAAAAAT-C
MyVariant Identifiers: chr21:g.43416599_43416604del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416602_43416607del , CM000683.2:g.43416602_43416607del GRCh38
NG_052009.1:g.15529_15534del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.*138_*143del MANE Select ENSP00000270162.6:n.*138_*143del
ENST00000270162.6:c.*138_*143del ENSP00000270162.6:n.*138_*143del
NM_173354.3:c.*138_*143del NP_775490.2:n.*138_*143del
XM_011529474.1:c.*138_*143del XP_011527776.1:n.*138_*143del
NM_173354.4:c.*138_*143del NP_775490.2:n.*138_*143del
XM_011529474.2:c.*138_*143del XP_011527776.1:n.*138_*143del
NM_173354.5:c.*138_*143del MANE Select NP_775490.2:n.*138_*143del
Search 100 bp 5'
Search 100 bp 3'