Canonical Allele Identifier: CA2343355657
Gene: BRSK1 HGNC NCBI

Linked Data

dbSNP Id: rs2088694288

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308289_55308290insA , CM000681.2:g.55308289_55308290insA GRCh38
NC_000019.9:g.55819657_55819658insA , CM000681.1:g.55819657_55819658insA GRCh37
NC_000019.8:g.60511469_60511470insA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2090-350_2090-349insA MANE Select ENSP00000310649.1:n.2090-350_2090-349insA
ENST00000309383.5:c.2090-350_2090-349insA ENSP00000310649.1:n.2090-350_2090-349insA
ENST00000326848.7:c.1175-350_1175-349insA ENSP00000320853.7:n.1175-350_1175-349insA
ENST00000590333.5:c.2138-350_2138-349insA ENSP00000468190.1:n.2138-350_2138-349insA
NM_032430.1:c.2090-350_2090-349insA NP_115806.1:n.2090-350_2090-349insA
XM_005259327.2:c.1820-350_1820-349insA XP_005259384.1:n.1820-350_1820-349insA
XM_011527395.1:c.1847-350_1847-349insA XP_011525697.1:n.1847-350_1847-349insA
XR_430213.2:n.2073-350_2073-349insA
XM_005259327.3:c.1820-350_1820-349insA XP_005259384.1:n.1820-350_1820-349insA
XM_011527395.2:c.1562-350_1562-349insA XP_011525697.2:n.1562-350_1562-349insA
XM_024451739.1:c.1865-350_1865-349insA XP_024307507.1:n.1865-350_1865-349insA
XR_430213.4:n.2371-350_2371-349insA
NM_032430.2:c.2090-350_2090-349insA MANE Select NP_115806.1:n.2090-350_2090-349insA