Canonical Allele Identifier: CA2343355906

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308757_55308759delinsGGC , CM000681.2:g.55308757_55308759delinsGGC	GRCh38
NC_000019.9:g.55820125_55820127delinsGGC , CM000681.1:g.55820125_55820127delinsGGC	GRCh37
NC_000019.8:g.60511937_60511939delinsGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+29_2179+31delinsGGC MANE Select	ENSP00000310649.1:n.2179+29_2179+31delinsGGC
ENST00000309383.5:c.2179+29_2179+31delinsGGC	ENSP00000310649.1:n.2179+29_2179+31delinsGGC
ENST00000326848.7:c.1264+29_1264+31delinsGGC	ENSP00000320853.7:n.1264+29_1264+31delinsGGC
ENST00000590333.5:c.2227+29_2227+31delinsGGC	ENSP00000468190.1:n.2227+29_2227+31delinsGGC
NM_032430.1:c.2179+29_2179+31delinsGGC	NP_115806.1:n.2179+29_2179+31delinsGGC
XM_005259327.2:c.1909+29_1909+31delinsGGC	XP_005259384.1:n.1909+29_1909+31delinsGGC
XM_011527395.1:c.1936+29_1936+31delinsGGC	XP_011525697.1:n.1936+29_1936+31delinsGGC
XR_430213.2:n.2162+29_2162+31delinsGGC
XM_005259327.3:c.1909+29_1909+31delinsGGC	XP_005259384.1:n.1909+29_1909+31delinsGGC
XM_011527395.2:c.1651+29_1651+31delinsGGC	XP_011525697.2:n.1651+29_1651+31delinsGGC
XM_024451739.1:c.1954+29_1954+31delinsGGC	XP_024307507.1:n.1954+29_1954+31delinsGGC
XR_430213.4:n.2460+29_2460+31delinsGGC
NM_032430.2:c.2179+29_2179+31delinsGGC MANE Select	NP_115806.1:n.2179+29_2179+31delinsGGC