Canonical Allele Identifier: CA2343355925

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308773_55308774delinsGC , CM000681.2:g.55308773_55308774delinsGC	GRCh38
NC_000019.9:g.55820141_55820142delinsGC , CM000681.1:g.55820141_55820142delinsGC	GRCh37
NC_000019.8:g.60511953_60511954delinsGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+45_2179+46delinsGC MANE Select	ENSP00000310649.1:n.2179+45_2179+46delinsGC
ENST00000309383.5:c.2179+45_2179+46delinsGC	ENSP00000310649.1:n.2179+45_2179+46delinsGC
ENST00000326848.7:c.1264+45_1264+46delinsGC	ENSP00000320853.7:n.1264+45_1264+46delinsGC
ENST00000590333.5:c.2227+45_2227+46delinsGC	ENSP00000468190.1:n.2227+45_2227+46delinsGC
NM_032430.1:c.2179+45_2179+46delinsGC	NP_115806.1:n.2179+45_2179+46delinsGC
XM_005259327.2:c.1909+45_1909+46delinsGC	XP_005259384.1:n.1909+45_1909+46delinsGC
XM_011527395.1:c.1936+45_1936+46delinsGC	XP_011525697.1:n.1936+45_1936+46delinsGC
XR_430213.2:n.2162+45_2162+46delinsGC
XM_005259327.3:c.1909+45_1909+46delinsGC	XP_005259384.1:n.1909+45_1909+46delinsGC
XM_011527395.2:c.1651+45_1651+46delinsGC	XP_011525697.2:n.1651+45_1651+46delinsGC
XM_024451739.1:c.1954+45_1954+46delinsGC	XP_024307507.1:n.1954+45_1954+46delinsGC
XR_430213.4:n.2460+45_2460+46delinsGC
NM_032430.2:c.2179+45_2179+46delinsGC MANE Select	NP_115806.1:n.2179+45_2179+46delinsGC