Canonical Allele Identifier: CA2343355538
Gene: BRSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308022_55308023delinsTG , CM000681.2:g.55308022_55308023delinsTG GRCh38
NC_000019.9:g.55819390_55819391delinsTG , CM000681.1:g.55819390_55819391delinsTG GRCh37
NC_000019.8:g.60511202_60511203delinsTG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2090-617_2090-616delinsTG MANE Select ENSP00000310649.1:n.2090-617_2090-616delinsTG
ENST00000309383.5:c.2090-617_2090-616delinsTG ENSP00000310649.1:n.2090-617_2090-616delinsTG
ENST00000326848.7:c.1175-617_1175-616delinsTG ENSP00000320853.7:n.1175-617_1175-616delinsTG
ENST00000590333.5:c.2138-617_2138-616delinsTG ENSP00000468190.1:n.2138-617_2138-616delinsTG
NM_032430.1:c.2090-617_2090-616delinsTG NP_115806.1:n.2090-617_2090-616delinsTG
XM_005259327.2:c.1820-617_1820-616delinsTG XP_005259384.1:n.1820-617_1820-616delinsTG
XM_011527395.1:c.1847-617_1847-616delinsTG XP_011525697.1:n.1847-617_1847-616delinsTG
XR_430213.2:n.2073-617_2073-616delinsTG
XM_005259327.3:c.1820-617_1820-616delinsTG XP_005259384.1:n.1820-617_1820-616delinsTG
XM_011527395.2:c.1562-617_1562-616delinsTG XP_011525697.2:n.1562-617_1562-616delinsTG
XM_024451739.1:c.1865-617_1865-616delinsTG XP_024307507.1:n.1865-617_1865-616delinsTG
XR_430213.4:n.2371-617_2371-616delinsTG
NM_032430.2:c.2090-617_2090-616delinsTG MANE Select NP_115806.1:n.2090-617_2090-616delinsTG