Canonical Allele Identifier: CA997262889

Gene: BRSK1

Linked Data

• dbSNP Id: rs1568990270
• gnomAD v3: 19-55308752-T-TGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGC
• gnomAD v4: 19-55308752-T-TGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308773_55308774insGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGG , CM000681.2:g.55308773_55308774insGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGG	GRCh38
NC_000019.9:g.55820141_55820142insGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGG , CM000681.1:g.55820141_55820142insGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGG	GRCh37
NC_000019.8:g.60511953_60511954insGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGG	NCBI36

Transcript Alleles

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