Canonical Allele Identifier: CA2343355927

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308774_55308822delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG , CM000681.2:g.55308774_55308822delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	GRCh38
NC_000019.9:g.55820142_55820190delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG , CM000681.1:g.55820142_55820190delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	GRCh37
NC_000019.8:g.60511954_60512002delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+46_2179+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG MANE Select	ENSP00000310649.1:n.2179+46_2179+94delinsCCGTGGGTGGCGGGGGGCGT...
ENST00000309383.5:c.2179+46_2179+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	ENSP00000310649.1:n.2179+46_2179+94delinsCCGTGGGTGGCGGGGGGCGT...
ENST00000326848.7:c.1264+46_1264+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	ENSP00000320853.7:n.1264+46_1264+94delinsCCGTGGGTGGCGGGGGGCGT...
ENST00000590333.5:c.2227+46_2227+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	ENSP00000468190.1:n.2227+46_2227+94delinsCCGTGGGTGGCGGGGGGCGT...
NM_032430.1:c.2179+46_2179+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	NP_115806.1:n.2179+46_2179+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGG...
XM_005259327.2:c.1909+46_1909+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	XP_005259384.1:n.1909+46_1909+94delinsCCGTGGGTGGCGGGGGGCGTGGG...
XM_011527395.1:c.1936+46_1936+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	XP_011525697.1:n.1936+46_1936+94delinsCCGTGGGTGGCGGGGGGCGTGGG...
XR_430213.2:n.2162+46_2162+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG
XM_005259327.3:c.1909+46_1909+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	XP_005259384.1:n.1909+46_1909+94delinsCCGTGGGTGGCGGGGGGCGTGGG...
XM_011527395.2:c.1651+46_1651+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	XP_011525697.2:n.1651+46_1651+94delinsCCGTGGGTGGCGGGGGGCGTGGG...
XM_024451739.1:c.1954+46_1954+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	XP_024307507.1:n.1954+46_1954+94delinsCCGTGGGTGGCGGGGGGCGTGGG...
XR_430213.4:n.2460+46_2460+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG
NM_032430.2:c.2179+46_2179+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG MANE Select	NP_115806.1:n.2179+46_2179+94delinsCCGTGGGTGGCGGGGGGCGTGGGTGG...