Canonical Allele Identifier: CA2343355978

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308801_55308816delinsGGGGGGCGTGGGTGGC , CM000681.2:g.55308801_55308816delinsGGGGGGCGTGGGTGGC	GRCh38
NC_000019.9:g.55820169_55820184delinsGGGGGGCGTGGGTGGC , CM000681.1:g.55820169_55820184delinsGGGGGGCGTGGGTGGC	GRCh37
NC_000019.8:g.60511981_60511996delinsGGGGGGCGTGGGTGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+73_2179+88delinsGGGGGGCGTGGGTGGC MANE Select	ENSP00000310649.1:n.2179+73_2179+88delinsGGGGGGCGTGGGTGGC
ENST00000309383.5:c.2179+73_2179+88delinsGGGGGGCGTGGGTGGC	ENSP00000310649.1:n.2179+73_2179+88delinsGGGGGGCGTGGGTGGC
ENST00000326848.7:c.1264+73_1264+88delinsGGGGGGCGTGGGTGGC	ENSP00000320853.7:n.1264+73_1264+88delinsGGGGGGCGTGGGTGGC
ENST00000590333.5:c.2227+73_2227+88delinsGGGGGGCGTGGGTGGC	ENSP00000468190.1:n.2227+73_2227+88delinsGGGGGGCGTGGGTGGC
NM_032430.1:c.2179+73_2179+88delinsGGGGGGCGTGGGTGGC	NP_115806.1:n.2179+73_2179+88delinsGGGGGGCGTGGGTGGC
XM_005259327.2:c.1909+73_1909+88delinsGGGGGGCGTGGGTGGC	XP_005259384.1:n.1909+73_1909+88delinsGGGGGGCGTGGGTGGC
XM_011527395.1:c.1936+73_1936+88delinsGGGGGGCGTGGGTGGC	XP_011525697.1:n.1936+73_1936+88delinsGGGGGGCGTGGGTGGC
XR_430213.2:n.2162+73_2162+88delinsGGGGGGCGTGGGTGGC
XM_005259327.3:c.1909+73_1909+88delinsGGGGGGCGTGGGTGGC	XP_005259384.1:n.1909+73_1909+88delinsGGGGGGCGTGGGTGGC
XM_011527395.2:c.1651+73_1651+88delinsGGGGGGCGTGGGTGGC	XP_011525697.2:n.1651+73_1651+88delinsGGGGGGCGTGGGTGGC
XM_024451739.1:c.1954+73_1954+88delinsGGGGGGCGTGGGTGGC	XP_024307507.1:n.1954+73_1954+88delinsGGGGGGCGTGGGTGGC
XR_430213.4:n.2460+73_2460+88delinsGGGGGGCGTGGGTGGC
NM_032430.2:c.2179+73_2179+88delinsGGGGGGCGTGGGTGGC MANE Select	NP_115806.1:n.2179+73_2179+88delinsGGGGGGCGTGGGTGGC