Canonical Allele Identifier: CA2343355896
Gene: BRSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308752_55308816delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC , CM000681.2:g.55308752_55308816delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC GRCh38
NC_000019.9:g.55820120_55820184delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC , CM000681.1:g.55820120_55820184delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC GRCh37
NC_000019.8:g.60511932_60511996delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2179+24_2179+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC MANE Select ENSP00000310649.1:n.2179+24_2179+88delinsTGGGGGGCGTGGGTGGCGGG...
ENST00000309383.5:c.2179+24_2179+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC ENSP00000310649.1:n.2179+24_2179+88delinsTGGGGGGCGTGGGTGGCGGG...
ENST00000326848.7:c.1264+24_1264+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC ENSP00000320853.7:n.1264+24_1264+88delinsTGGGGGGCGTGGGTGGCGGG...
ENST00000590333.5:c.2227+24_2227+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC ENSP00000468190.1:n.2227+24_2227+88delinsTGGGGGGCGTGGGTGGCGGG...
NM_032430.1:c.2179+24_2179+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC NP_115806.1:n.2179+24_2179+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGT...
XM_005259327.2:c.1909+24_1909+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC XP_005259384.1:n.1909+24_1909+88delinsTGGGGGGCGTGGGTGGCGGGGGC...
XM_011527395.1:c.1936+24_1936+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC XP_011525697.1:n.1936+24_1936+88delinsTGGGGGGCGTGGGTGGCGGGGGC...
XR_430213.2:n.2162+24_2162+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC
XM_005259327.3:c.1909+24_1909+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC XP_005259384.1:n.1909+24_1909+88delinsTGGGGGGCGTGGGTGGCGGGGGC...
XM_011527395.2:c.1651+24_1651+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC XP_011525697.2:n.1651+24_1651+88delinsTGGGGGGCGTGGGTGGCGGGGGC...
XM_024451739.1:c.1954+24_1954+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC XP_024307507.1:n.1954+24_1954+88delinsTGGGGGGCGTGGGTGGCGGGGGC...
XR_430213.4:n.2460+24_2460+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC
NM_032430.2:c.2179+24_2179+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGC MANE Select NP_115806.1:n.2179+24_2179+88delinsTGGGGGGCGTGGGTGGCGGGGGCCGT...