Canonical Allele Identifier: CA2343355982

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308804_55308807delinsGGGC , CM000681.2:g.55308804_55308807delinsGGGC	GRCh38
NC_000019.9:g.55820172_55820175delinsGGGC , CM000681.1:g.55820172_55820175delinsGGGC	GRCh37
NC_000019.8:g.60511984_60511987delinsGGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+76_2179+79delinsGGGC MANE Select	ENSP00000310649.1:n.2179+76_2179+79delinsGGGC
ENST00000309383.5:c.2179+76_2179+79delinsGGGC	ENSP00000310649.1:n.2179+76_2179+79delinsGGGC
ENST00000326848.7:c.1264+76_1264+79delinsGGGC	ENSP00000320853.7:n.1264+76_1264+79delinsGGGC
ENST00000590333.5:c.2227+76_2227+79delinsGGGC	ENSP00000468190.1:n.2227+76_2227+79delinsGGGC
NM_032430.1:c.2179+76_2179+79delinsGGGC	NP_115806.1:n.2179+76_2179+79delinsGGGC
XM_005259327.2:c.1909+76_1909+79delinsGGGC	XP_005259384.1:n.1909+76_1909+79delinsGGGC
XM_011527395.1:c.1936+76_1936+79delinsGGGC	XP_011525697.1:n.1936+76_1936+79delinsGGGC
XR_430213.2:n.2162+76_2162+79delinsGGGC
XM_005259327.3:c.1909+76_1909+79delinsGGGC	XP_005259384.1:n.1909+76_1909+79delinsGGGC
XM_011527395.2:c.1651+76_1651+79delinsGGGC	XP_011525697.2:n.1651+76_1651+79delinsGGGC
XM_024451739.1:c.1954+76_1954+79delinsGGGC	XP_024307507.1:n.1954+76_1954+79delinsGGGC
XR_430213.4:n.2460+76_2460+79delinsGGGC
NM_032430.2:c.2179+76_2179+79delinsGGGC MANE Select	NP_115806.1:n.2179+76_2179+79delinsGGGC