Canonical Allele Identifier: CA2343355502
Gene: BRSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55307966_55307971delinsAAAAAG , CM000681.2:g.55307966_55307971delinsAAAAAG GRCh38
NC_000019.9:g.55819334_55819339delinsAAAAAG , CM000681.1:g.55819334_55819339delinsAAAAAG GRCh37
NC_000019.8:g.60511146_60511151delinsAAAAAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2090-673_2090-668delinsAAAAAG MANE Select ENSP00000310649.1:n.2090-673_2090-668delinsAAAAAG
ENST00000309383.5:c.2090-673_2090-668delinsAAAAAG ENSP00000310649.1:n.2090-673_2090-668delinsAAAAAG
ENST00000326848.7:c.1175-673_1175-668delinsAAAAAG ENSP00000320853.7:n.1175-673_1175-668delinsAAAAAG
ENST00000590333.5:c.2138-673_2138-668delinsAAAAAG ENSP00000468190.1:n.2138-673_2138-668delinsAAAAAG
NM_032430.1:c.2090-673_2090-668delinsAAAAAG NP_115806.1:n.2090-673_2090-668delinsAAAAAG
XM_005259327.2:c.1820-673_1820-668delinsAAAAAG XP_005259384.1:n.1820-673_1820-668delinsAAAAAG
XM_011527395.1:c.1847-673_1847-668delinsAAAAAG XP_011525697.1:n.1847-673_1847-668delinsAAAAAG
XR_430213.2:n.2073-673_2073-668delinsAAAAAG
XM_005259327.3:c.1820-673_1820-668delinsAAAAAG XP_005259384.1:n.1820-673_1820-668delinsAAAAAG
XM_011527395.2:c.1562-673_1562-668delinsAAAAAG XP_011525697.2:n.1562-673_1562-668delinsAAAAAG
XM_024451739.1:c.1865-673_1865-668delinsAAAAAG XP_024307507.1:n.1865-673_1865-668delinsAAAAAG
XR_430213.4:n.2371-673_2371-668delinsAAAAAG
NM_032430.2:c.2090-673_2090-668delinsAAAAAG MANE Select NP_115806.1:n.2090-673_2090-668delinsAAAAAG