Canonical Allele Identifier: CA2343355981

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308803_55308813delinsGGGGCGTGGGT , CM000681.2:g.55308803_55308813delinsGGGGCGTGGGT	GRCh38
NC_000019.9:g.55820171_55820181delinsGGGGCGTGGGT , CM000681.1:g.55820171_55820181delinsGGGGCGTGGGT	GRCh37
NC_000019.8:g.60511983_60511993delinsGGGGCGTGGGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+75_2179+85delinsGGGGCGTGGGT MANE Select	ENSP00000310649.1:n.2179+75_2179+85delinsGGGGCGTGGGT
ENST00000309383.5:c.2179+75_2179+85delinsGGGGCGTGGGT	ENSP00000310649.1:n.2179+75_2179+85delinsGGGGCGTGGGT
ENST00000326848.7:c.1264+75_1264+85delinsGGGGCGTGGGT	ENSP00000320853.7:n.1264+75_1264+85delinsGGGGCGTGGGT
ENST00000590333.5:c.2227+75_2227+85delinsGGGGCGTGGGT	ENSP00000468190.1:n.2227+75_2227+85delinsGGGGCGTGGGT
NM_032430.1:c.2179+75_2179+85delinsGGGGCGTGGGT	NP_115806.1:n.2179+75_2179+85delinsGGGGCGTGGGT
XM_005259327.2:c.1909+75_1909+85delinsGGGGCGTGGGT	XP_005259384.1:n.1909+75_1909+85delinsGGGGCGTGGGT
XM_011527395.1:c.1936+75_1936+85delinsGGGGCGTGGGT	XP_011525697.1:n.1936+75_1936+85delinsGGGGCGTGGGT
XR_430213.2:n.2162+75_2162+85delinsGGGGCGTGGGT
XM_005259327.3:c.1909+75_1909+85delinsGGGGCGTGGGT	XP_005259384.1:n.1909+75_1909+85delinsGGGGCGTGGGT
XM_011527395.2:c.1651+75_1651+85delinsGGGGCGTGGGT	XP_011525697.2:n.1651+75_1651+85delinsGGGGCGTGGGT
XM_024451739.1:c.1954+75_1954+85delinsGGGGCGTGGGT	XP_024307507.1:n.1954+75_1954+85delinsGGGGCGTGGGT
XR_430213.4:n.2460+75_2460+85delinsGGGGCGTGGGT
NM_032430.2:c.2179+75_2179+85delinsGGGGCGTGGGT MANE Select	NP_115806.1:n.2179+75_2179+85delinsGGGGCGTGGGT