Canonical Allele Identifier: CA2343355983

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308804_55308813delinsGGGCGTGGGT , CM000681.2:g.55308804_55308813delinsGGGCGTGGGT	GRCh38
NC_000019.9:g.55820172_55820181delinsGGGCGTGGGT , CM000681.1:g.55820172_55820181delinsGGGCGTGGGT	GRCh37
NC_000019.8:g.60511984_60511993delinsGGGCGTGGGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+76_2179+85delinsGGGCGTGGGT MANE Select	ENSP00000310649.1:n.2179+76_2179+85delinsGGGCGTGGGT
ENST00000309383.5:c.2179+76_2179+85delinsGGGCGTGGGT	ENSP00000310649.1:n.2179+76_2179+85delinsGGGCGTGGGT
ENST00000326848.7:c.1264+76_1264+85delinsGGGCGTGGGT	ENSP00000320853.7:n.1264+76_1264+85delinsGGGCGTGGGT
ENST00000590333.5:c.2227+76_2227+85delinsGGGCGTGGGT	ENSP00000468190.1:n.2227+76_2227+85delinsGGGCGTGGGT
NM_032430.1:c.2179+76_2179+85delinsGGGCGTGGGT	NP_115806.1:n.2179+76_2179+85delinsGGGCGTGGGT
XM_005259327.2:c.1909+76_1909+85delinsGGGCGTGGGT	XP_005259384.1:n.1909+76_1909+85delinsGGGCGTGGGT
XM_011527395.1:c.1936+76_1936+85delinsGGGCGTGGGT	XP_011525697.1:n.1936+76_1936+85delinsGGGCGTGGGT
XR_430213.2:n.2162+76_2162+85delinsGGGCGTGGGT
XM_005259327.3:c.1909+76_1909+85delinsGGGCGTGGGT	XP_005259384.1:n.1909+76_1909+85delinsGGGCGTGGGT
XM_011527395.2:c.1651+76_1651+85delinsGGGCGTGGGT	XP_011525697.2:n.1651+76_1651+85delinsGGGCGTGGGT
XM_024451739.1:c.1954+76_1954+85delinsGGGCGTGGGT	XP_024307507.1:n.1954+76_1954+85delinsGGGCGTGGGT
XR_430213.4:n.2460+76_2460+85delinsGGGCGTGGGT
NM_032430.2:c.2179+76_2179+85delinsGGGCGTGGGT MANE Select	NP_115806.1:n.2179+76_2179+85delinsGGGCGTGGGT