Canonical Allele Identifier: CA2582275978

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308850-G-GGGGGCGTGGGT
• gnomAD v4: 19-55308850-G-GGGGGCGTGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308851_55308852insGGGCGTGGGTG , CM000681.2:g.55308851_55308852insGGGCGTGGGTG	GRCh38
NC_000019.9:g.55820219_55820220insGGGCGTGGGTG , CM000681.1:g.55820219_55820220insGGGCGTGGGTG	GRCh37
NC_000019.8:g.60512031_60512032insGGGCGTGGGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+123_2179+124insGGGCGTGGGTG MANE Select	ENSP00000310649.1:n.2179+123_2179+124insGGGCGTGGGTG
ENST00000309383.5:c.2179+123_2179+124insGGGCGTGGGTG	ENSP00000310649.1:n.2179+123_2179+124insGGGCGTGGGTG
ENST00000326848.7:c.1264+123_1264+124insGGGCGTGGGTG	ENSP00000320853.7:n.1264+123_1264+124insGGGCGTGGGTG
ENST00000590333.5:c.2227+123_2227+124insGGGCGTGGGTG	ENSP00000468190.1:n.2227+123_2227+124insGGGCGTGGGTG
NM_032430.1:c.2179+123_2179+124insGGGCGTGGGTG	NP_115806.1:n.2179+123_2179+124insGGGCGTGGGTG
XM_005259327.2:c.1909+123_1909+124insGGGCGTGGGTG	XP_005259384.1:n.1909+123_1909+124insGGGCGTGGGTG
XM_011527395.1:c.1936+123_1936+124insGGGCGTGGGTG	XP_011525697.1:n.1936+123_1936+124insGGGCGTGGGTG
XR_430213.2:n.2162+123_2162+124insGGGCGTGGGTG
XM_005259327.3:c.1909+123_1909+124insGGGCGTGGGTG	XP_005259384.1:n.1909+123_1909+124insGGGCGTGGGTG
XM_011527395.2:c.1651+123_1651+124insGGGCGTGGGTG	XP_011525697.2:n.1651+123_1651+124insGGGCGTGGGTG
XM_024451739.1:c.1954+123_1954+124insGGGCGTGGGTG	XP_024307507.1:n.1954+123_1954+124insGGGCGTGGGTG
XR_430213.4:n.2460+123_2460+124insGGGCGTGGGTG
NM_032430.2:c.2179+123_2179+124insGGGCGTGGGTG MANE Select	NP_115806.1:n.2179+123_2179+124insGGGCGTGGGTG