Canonical Allele Identifier: CA321324712

Gene: SIK1

Linked Data

• dbSNP Id: rs950690737
• gnomAD v3: 21-43417453-AGAG-A
• gnomAD v4: 21-43417453-AGAG-A
• MyVariant Identifiers: chr21:g.43417454_43417456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43417458_43417460del , CM000683.2:g.43417458_43417460del	GRCh38
NG_052009.1:g.14677_14679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270162.8:c.1976+87_1976+89del MANE Select	ENSP00000270162.6:n.1976+87_1976+89del
ENST00000270162.6:c.1976+87_1976+89del	ENSP00000270162.6:n.1976+87_1976+89del
NM_173354.3:c.1976+87_1976+89del	NP_775490.2:n.1976+87_1976+89del
XM_011529474.1:c.1829+87_1829+89del	XP_011527776.1:n.1829+87_1829+89del
NM_173354.4:c.1976+87_1976+89del	NP_775490.2:n.1976+87_1976+89del
XM_011529474.2:c.1829+87_1829+89del	XP_011527776.1:n.1829+87_1829+89del
NM_173354.5:c.1976+87_1976+89del MANE Select	NP_775490.2:n.1976+87_1976+89del