Canonical Allele Identifier: CA2343355933

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308777_55308807delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC , CM000681.2:g.55308777_55308807delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC	GRCh38
NC_000019.9:g.55820145_55820175delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC , CM000681.1:g.55820145_55820175delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC	GRCh37
NC_000019.8:g.60511957_60511987delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+49_2179+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC MANE Select	ENSP00000310649.1:n.2179+49_2179+79delinsTGGGTGGCGGGGGGCGTGGG...
ENST00000309383.5:c.2179+49_2179+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC	ENSP00000310649.1:n.2179+49_2179+79delinsTGGGTGGCGGGGGGCGTGGG...
ENST00000326848.7:c.1264+49_1264+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC	ENSP00000320853.7:n.1264+49_1264+79delinsTGGGTGGCGGGGGGCGTGGG...
ENST00000590333.5:c.2227+49_2227+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC	ENSP00000468190.1:n.2227+49_2227+79delinsTGGGTGGCGGGGGGCGTGGG...
NM_032430.1:c.2179+49_2179+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC	NP_115806.1:n.2179+49_2179+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGG...
XM_005259327.2:c.1909+49_1909+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC	XP_005259384.1:n.1909+49_1909+79delinsTGGGTGGCGGGGGGCGTGGGTGG...
XM_011527395.1:c.1936+49_1936+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC	XP_011525697.1:n.1936+49_1936+79delinsTGGGTGGCGGGGGGCGTGGGTGG...
XR_430213.2:n.2162+49_2162+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC
XM_005259327.3:c.1909+49_1909+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC	XP_005259384.1:n.1909+49_1909+79delinsTGGGTGGCGGGGGGCGTGGGTGG...
XM_011527395.2:c.1651+49_1651+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC	XP_011525697.2:n.1651+49_1651+79delinsTGGGTGGCGGGGGGCGTGGGTGG...
XM_024451739.1:c.1954+49_1954+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC	XP_024307507.1:n.1954+49_1954+79delinsTGGGTGGCGGGGGGCGTGGGTGG...
XR_430213.4:n.2460+49_2460+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC
NM_032430.2:c.2179+49_2179+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC MANE Select	NP_115806.1:n.2179+49_2179+79delinsTGGGTGGCGGGGGGCGTGGGTGGCGG...