Canonical Allele Identifier: CA2343355526
Gene: BRSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308005_55308007delinsTTG , CM000681.2:g.55308005_55308007delinsTTG GRCh38
NC_000019.9:g.55819373_55819375delinsTTG , CM000681.1:g.55819373_55819375delinsTTG GRCh37
NC_000019.8:g.60511185_60511187delinsTTG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2090-634_2090-632delinsTTG MANE Select ENSP00000310649.1:n.2090-634_2090-632delinsTTG
ENST00000309383.5:c.2090-634_2090-632delinsTTG ENSP00000310649.1:n.2090-634_2090-632delinsTTG
ENST00000326848.7:c.1175-634_1175-632delinsTTG ENSP00000320853.7:n.1175-634_1175-632delinsTTG
ENST00000590333.5:c.2138-634_2138-632delinsTTG ENSP00000468190.1:n.2138-634_2138-632delinsTTG
NM_032430.1:c.2090-634_2090-632delinsTTG NP_115806.1:n.2090-634_2090-632delinsTTG
XM_005259327.2:c.1820-634_1820-632delinsTTG XP_005259384.1:n.1820-634_1820-632delinsTTG
XM_011527395.1:c.1847-634_1847-632delinsTTG XP_011525697.1:n.1847-634_1847-632delinsTTG
XR_430213.2:n.2073-634_2073-632delinsTTG
XM_005259327.3:c.1820-634_1820-632delinsTTG XP_005259384.1:n.1820-634_1820-632delinsTTG
XM_011527395.2:c.1562-634_1562-632delinsTTG XP_011525697.2:n.1562-634_1562-632delinsTTG
XM_024451739.1:c.1865-634_1865-632delinsTTG XP_024307507.1:n.1865-634_1865-632delinsTTG
XR_430213.4:n.2371-634_2371-632delinsTTG
NM_032430.2:c.2090-634_2090-632delinsTTG MANE Select NP_115806.1:n.2090-634_2090-632delinsTTG