Canonical Allele Identifier: CA2343355963

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308793_55308819delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG , CM000681.2:g.55308793_55308819delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG	GRCh38
NC_000019.9:g.55820161_55820187delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG , CM000681.1:g.55820161_55820187delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG	GRCh37
NC_000019.8:g.60511973_60511999delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+65_2179+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG MANE Select	ENSP00000310649.1:n.2179+65_2179+91delinsTGGGTGGCGGGGGGCGTGGG...
ENST00000309383.5:c.2179+65_2179+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG	ENSP00000310649.1:n.2179+65_2179+91delinsTGGGTGGCGGGGGGCGTGGG...
ENST00000326848.7:c.1264+65_1264+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG	ENSP00000320853.7:n.1264+65_1264+91delinsTGGGTGGCGGGGGGCGTGGG...
ENST00000590333.5:c.2227+65_2227+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG	ENSP00000468190.1:n.2227+65_2227+91delinsTGGGTGGCGGGGGGCGTGGG...
NM_032430.1:c.2179+65_2179+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG	NP_115806.1:n.2179+65_2179+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGG...
XM_005259327.2:c.1909+65_1909+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG	XP_005259384.1:n.1909+65_1909+91delinsTGGGTGGCGGGGGGCGTGGGTGG...
XM_011527395.1:c.1936+65_1936+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG	XP_011525697.1:n.1936+65_1936+91delinsTGGGTGGCGGGGGGCGTGGGTGG...
XR_430213.2:n.2162+65_2162+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG
XM_005259327.3:c.1909+65_1909+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG	XP_005259384.1:n.1909+65_1909+91delinsTGGGTGGCGGGGGGCGTGGGTGG...
XM_011527395.2:c.1651+65_1651+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG	XP_011525697.2:n.1651+65_1651+91delinsTGGGTGGCGGGGGGCGTGGGTGG...
XM_024451739.1:c.1954+65_1954+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG	XP_024307507.1:n.1954+65_1954+91delinsTGGGTGGCGGGGGGCGTGGGTGG...
XR_430213.4:n.2460+65_2460+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG
NM_032430.2:c.2179+65_2179+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGGG MANE Select	NP_115806.1:n.2179+65_2179+91delinsTGGGTGGCGGGGGGCGTGGGTGGCGG...