Canonical Allele Identifier: CA2814886390

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308851_55308852insGGGGGGGGGTGGCG , CM000681.2:g.55308851_55308852insGGGGGGGGGTGGCG	GRCh38
NC_000019.9:g.55820219_55820220insGGGGGGGGGTGGCG , CM000681.1:g.55820219_55820220insGGGGGGGGGTGGCG	GRCh37
NC_000019.8:g.60512031_60512032insGGGGGGGGGTGGCG	NCBI36

Transcript Alleles

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