Canonical Allele Identifier: CA997262944

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308829-T-TGGCGGGGGCGGTGGGG
• gnomAD v4: 19-55308829-T-TGGCGGGGGCGGTGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308844_55308845insGGGCGGGGGCGGTGGG , CM000681.2:g.55308844_55308845insGGGCGGGGGCGGTGGG	GRCh38
NC_000019.9:g.55820212_55820213insGGGCGGGGGCGGTGGG , CM000681.1:g.55820212_55820213insGGGCGGGGGCGGTGGG	GRCh37
NC_000019.8:g.60512024_60512025insGGGCGGGGGCGGTGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+116_2179+117insGGGCGGGGGCGGTGGG MANE Select	ENSP00000310649.1:n.2179+116_2179+117insGGGCGGGGGCGGTGGG
ENST00000309383.5:c.2179+116_2179+117insGGGCGGGGGCGGTGGG	ENSP00000310649.1:n.2179+116_2179+117insGGGCGGGGGCGGTGGG
ENST00000326848.7:c.1264+116_1264+117insGGGCGGGGGCGGTGGG	ENSP00000320853.7:n.1264+116_1264+117insGGGCGGGGGCGGTGGG
ENST00000590333.5:c.2227+116_2227+117insGGGCGGGGGCGGTGGG	ENSP00000468190.1:n.2227+116_2227+117insGGGCGGGGGCGGTGGG
NM_032430.1:c.2179+116_2179+117insGGGCGGGGGCGGTGGG	NP_115806.1:n.2179+116_2179+117insGGGCGGGGGCGGTGGG
XM_005259327.2:c.1909+116_1909+117insGGGCGGGGGCGGTGGG	XP_005259384.1:n.1909+116_1909+117insGGGCGGGGGCGGTGGG
XM_011527395.1:c.1936+116_1936+117insGGGCGGGGGCGGTGGG	XP_011525697.1:n.1936+116_1936+117insGGGCGGGGGCGGTGGG
XR_430213.2:n.2162+116_2162+117insGGGCGGGGGCGGTGGG
XM_005259327.3:c.1909+116_1909+117insGGGCGGGGGCGGTGGG	XP_005259384.1:n.1909+116_1909+117insGGGCGGGGGCGGTGGG
XM_011527395.2:c.1651+116_1651+117insGGGCGGGGGCGGTGGG	XP_011525697.2:n.1651+116_1651+117insGGGCGGGGGCGGTGGG
XM_024451739.1:c.1954+116_1954+117insGGGCGGGGGCGGTGGG	XP_024307507.1:n.1954+116_1954+117insGGGCGGGGGCGGTGGG
XR_430213.4:n.2460+116_2460+117insGGGCGGGGGCGGTGGG
NM_032430.2:c.2179+116_2179+117insGGGCGGGGGCGGTGGG MANE Select	NP_115806.1:n.2179+116_2179+117insGGGCGGGGGCGGTGGG