Canonical Allele Identifier: CA2343355988

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308807_55308839delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG , CM000681.2:g.55308807_55308839delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG	GRCh38
NC_000019.9:g.55820175_55820207delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG , CM000681.1:g.55820175_55820207delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG	GRCh37
NC_000019.8:g.60511987_60512019delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+79_2179+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG MANE Select	ENSP00000310649.1:n.2179+79_2179+111delinsCGTGGGTGGCGGGGGGCGT...
ENST00000309383.5:c.2179+79_2179+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG	ENSP00000310649.1:n.2179+79_2179+111delinsCGTGGGTGGCGGGGGGCGT...
ENST00000326848.7:c.1264+79_1264+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG	ENSP00000320853.7:n.1264+79_1264+111delinsCGTGGGTGGCGGGGGGCGT...
ENST00000590333.5:c.2227+79_2227+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG	ENSP00000468190.1:n.2227+79_2227+111delinsCGTGGGTGGCGGGGGGCGT...
NM_032430.1:c.2179+79_2179+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG	NP_115806.1:n.2179+79_2179+111delinsCGTGGGTGGCGGGGGGCGTGGGTGG...
XM_005259327.2:c.1909+79_1909+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG	XP_005259384.1:n.1909+79_1909+111delinsCGTGGGTGGCGGGGGGCGTGGG...
XM_011527395.1:c.1936+79_1936+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG	XP_011525697.1:n.1936+79_1936+111delinsCGTGGGTGGCGGGGGGCGTGGG...
XR_430213.2:n.2162+79_2162+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG
XM_005259327.3:c.1909+79_1909+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG	XP_005259384.1:n.1909+79_1909+111delinsCGTGGGTGGCGGGGGGCGTGGG...
XM_011527395.2:c.1651+79_1651+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG	XP_011525697.2:n.1651+79_1651+111delinsCGTGGGTGGCGGGGGGCGTGGG...
XM_024451739.1:c.1954+79_1954+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG	XP_024307507.1:n.1954+79_1954+111delinsCGTGGGTGGCGGGGGGCGTGGG...
XR_430213.4:n.2460+79_2460+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG
NM_032430.2:c.2179+79_2179+111delinsCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG MANE Select	NP_115806.1:n.2179+79_2179+111delinsCGTGGGTGGCGGGGGGCGTGGGTGG...