Canonical Allele Identifier: CA2343355936

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308778_55308793delinsGGGTGGCGGGGGGCGT , CM000681.2:g.55308778_55308793delinsGGGTGGCGGGGGGCGT	GRCh38
NC_000019.9:g.55820146_55820161delinsGGGTGGCGGGGGGCGT , CM000681.1:g.55820146_55820161delinsGGGTGGCGGGGGGCGT	GRCh37
NC_000019.8:g.60511958_60511973delinsGGGTGGCGGGGGGCGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+50_2179+65delinsGGGTGGCGGGGGGCGT MANE Select	ENSP00000310649.1:n.2179+50_2179+65delinsGGGTGGCGGGGGGCGT
ENST00000309383.5:c.2179+50_2179+65delinsGGGTGGCGGGGGGCGT	ENSP00000310649.1:n.2179+50_2179+65delinsGGGTGGCGGGGGGCGT
ENST00000326848.7:c.1264+50_1264+65delinsGGGTGGCGGGGGGCGT	ENSP00000320853.7:n.1264+50_1264+65delinsGGGTGGCGGGGGGCGT
ENST00000590333.5:c.2227+50_2227+65delinsGGGTGGCGGGGGGCGT	ENSP00000468190.1:n.2227+50_2227+65delinsGGGTGGCGGGGGGCGT
NM_032430.1:c.2179+50_2179+65delinsGGGTGGCGGGGGGCGT	NP_115806.1:n.2179+50_2179+65delinsGGGTGGCGGGGGGCGT
XM_005259327.2:c.1909+50_1909+65delinsGGGTGGCGGGGGGCGT	XP_005259384.1:n.1909+50_1909+65delinsGGGTGGCGGGGGGCGT
XM_011527395.1:c.1936+50_1936+65delinsGGGTGGCGGGGGGCGT	XP_011525697.1:n.1936+50_1936+65delinsGGGTGGCGGGGGGCGT
XR_430213.2:n.2162+50_2162+65delinsGGGTGGCGGGGGGCGT
XM_005259327.3:c.1909+50_1909+65delinsGGGTGGCGGGGGGCGT	XP_005259384.1:n.1909+50_1909+65delinsGGGTGGCGGGGGGCGT
XM_011527395.2:c.1651+50_1651+65delinsGGGTGGCGGGGGGCGT	XP_011525697.2:n.1651+50_1651+65delinsGGGTGGCGGGGGGCGT
XM_024451739.1:c.1954+50_1954+65delinsGGGTGGCGGGGGGCGT	XP_024307507.1:n.1954+50_1954+65delinsGGGTGGCGGGGGGCGT
XR_430213.4:n.2460+50_2460+65delinsGGGTGGCGGGGGGCGT
NM_032430.2:c.2179+50_2179+65delinsGGGTGGCGGGGGGCGT MANE Select	NP_115806.1:n.2179+50_2179+65delinsGGGTGGCGGGGGGCGT