Canonical Allele Identifier: CA2343355898

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308752_55308769delinsTGGGGGGCGTGGGTGGCG , CM000681.2:g.55308752_55308769delinsTGGGGGGCGTGGGTGGCG	GRCh38
NC_000019.9:g.55820120_55820137delinsTGGGGGGCGTGGGTGGCG , CM000681.1:g.55820120_55820137delinsTGGGGGGCGTGGGTGGCG	GRCh37
NC_000019.8:g.60511932_60511949delinsTGGGGGGCGTGGGTGGCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+24_2179+41delinsTGGGGGGCGTGGGTGGCG MANE Select	ENSP00000310649.1:n.2179+24_2179+41delinsTGGGGGGCGTGGGTGGCG
ENST00000309383.5:c.2179+24_2179+41delinsTGGGGGGCGTGGGTGGCG	ENSP00000310649.1:n.2179+24_2179+41delinsTGGGGGGCGTGGGTGGCG
ENST00000326848.7:c.1264+24_1264+41delinsTGGGGGGCGTGGGTGGCG	ENSP00000320853.7:n.1264+24_1264+41delinsTGGGGGGCGTGGGTGGCG
ENST00000590333.5:c.2227+24_2227+41delinsTGGGGGGCGTGGGTGGCG	ENSP00000468190.1:n.2227+24_2227+41delinsTGGGGGGCGTGGGTGGCG
NM_032430.1:c.2179+24_2179+41delinsTGGGGGGCGTGGGTGGCG	NP_115806.1:n.2179+24_2179+41delinsTGGGGGGCGTGGGTGGCG
XM_005259327.2:c.1909+24_1909+41delinsTGGGGGGCGTGGGTGGCG	XP_005259384.1:n.1909+24_1909+41delinsTGGGGGGCGTGGGTGGCG
XM_011527395.1:c.1936+24_1936+41delinsTGGGGGGCGTGGGTGGCG	XP_011525697.1:n.1936+24_1936+41delinsTGGGGGGCGTGGGTGGCG
XR_430213.2:n.2162+24_2162+41delinsTGGGGGGCGTGGGTGGCG
XM_005259327.3:c.1909+24_1909+41delinsTGGGGGGCGTGGGTGGCG	XP_005259384.1:n.1909+24_1909+41delinsTGGGGGGCGTGGGTGGCG
XM_011527395.2:c.1651+24_1651+41delinsTGGGGGGCGTGGGTGGCG	XP_011525697.2:n.1651+24_1651+41delinsTGGGGGGCGTGGGTGGCG
XM_024451739.1:c.1954+24_1954+41delinsTGGGGGGCGTGGGTGGCG	XP_024307507.1:n.1954+24_1954+41delinsTGGGGGGCGTGGGTGGCG
XR_430213.4:n.2460+24_2460+41delinsTGGGGGGCGTGGGTGGCG
NM_032430.2:c.2179+24_2179+41delinsTGGGGGGCGTGGGTGGCG MANE Select	NP_115806.1:n.2179+24_2179+41delinsTGGGGGGCGTGGGTGGCG