Canonical Allele Identifier: CA915952648
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 650557
ClinVar RCV Id: RCV000805726
dbSNP Id: rs1601506211
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416837_43416838delinsAT , CM000683.2:g.43416837_43416838delinsAT GRCh38
NG_052009.1:g.15295_15296delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2256_2257delinsAT MANE Select ENSP00000270162.6:p.Ala753Ser
ENST00000270162.6:c.2256_2257delinsAT ENSP00000270162.6:p.Ala753Ser
NM_173354.3:c.2256_2257delinsAT NP_775490.2:p.Ala753Ser
XM_011529474.1:c.2109_2110delinsAT XP_011527776.1:p.Ala704Ser
NM_173354.4:c.2256_2257delinsAT NP_775490.2:p.Ala753Ser
XM_011529474.2:c.2109_2110delinsAT XP_011527776.1:p.Ala704Ser
NM_173354.5:c.2256_2257delinsAT MANE Select NP_775490.2:p.Ala753Ser
Search 100 bp 5'
Search 100 bp 3'