Canonical Allele Identifier: CA2343355996

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308814_55308823delinsGGCGGGGGGC , CM000681.2:g.55308814_55308823delinsGGCGGGGGGC	GRCh38
NC_000019.9:g.55820182_55820191delinsGGCGGGGGGC , CM000681.1:g.55820182_55820191delinsGGCGGGGGGC	GRCh37
NC_000019.8:g.60511994_60512003delinsGGCGGGGGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+86_2179+95delinsGGCGGGGGGC MANE Select	ENSP00000310649.1:n.2179+86_2179+95delinsGGCGGGGGGC
ENST00000309383.5:c.2179+86_2179+95delinsGGCGGGGGGC	ENSP00000310649.1:n.2179+86_2179+95delinsGGCGGGGGGC
ENST00000326848.7:c.1264+86_1264+95delinsGGCGGGGGGC	ENSP00000320853.7:n.1264+86_1264+95delinsGGCGGGGGGC
ENST00000590333.5:c.2227+86_2227+95delinsGGCGGGGGGC	ENSP00000468190.1:n.2227+86_2227+95delinsGGCGGGGGGC
NM_032430.1:c.2179+86_2179+95delinsGGCGGGGGGC	NP_115806.1:n.2179+86_2179+95delinsGGCGGGGGGC
XM_005259327.2:c.1909+86_1909+95delinsGGCGGGGGGC	XP_005259384.1:n.1909+86_1909+95delinsGGCGGGGGGC
XM_011527395.1:c.1936+86_1936+95delinsGGCGGGGGGC	XP_011525697.1:n.1936+86_1936+95delinsGGCGGGGGGC
XR_430213.2:n.2162+86_2162+95delinsGGCGGGGGGC
XM_005259327.3:c.1909+86_1909+95delinsGGCGGGGGGC	XP_005259384.1:n.1909+86_1909+95delinsGGCGGGGGGC
XM_011527395.2:c.1651+86_1651+95delinsGGCGGGGGGC	XP_011525697.2:n.1651+86_1651+95delinsGGCGGGGGGC
XM_024451739.1:c.1954+86_1954+95delinsGGCGGGGGGC	XP_024307507.1:n.1954+86_1954+95delinsGGCGGGGGGC
XR_430213.4:n.2460+86_2460+95delinsGGCGGGGGGC
NM_032430.2:c.2179+86_2179+95delinsGGCGGGGGGC MANE Select	NP_115806.1:n.2179+86_2179+95delinsGGCGGGGGGC