Canonical Allele Identifier: CA2343355915

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308766_55308775delinsGGCGGGGGCC , CM000681.2:g.55308766_55308775delinsGGCGGGGGCC	GRCh38
NC_000019.9:g.55820134_55820143delinsGGCGGGGGCC , CM000681.1:g.55820134_55820143delinsGGCGGGGGCC	GRCh37
NC_000019.8:g.60511946_60511955delinsGGCGGGGGCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+38_2179+47delinsGGCGGGGGCC MANE Select	ENSP00000310649.1:n.2179+38_2179+47delinsGGCGGGGGCC
ENST00000309383.5:c.2179+38_2179+47delinsGGCGGGGGCC	ENSP00000310649.1:n.2179+38_2179+47delinsGGCGGGGGCC
ENST00000326848.7:c.1264+38_1264+47delinsGGCGGGGGCC	ENSP00000320853.7:n.1264+38_1264+47delinsGGCGGGGGCC
ENST00000590333.5:c.2227+38_2227+47delinsGGCGGGGGCC	ENSP00000468190.1:n.2227+38_2227+47delinsGGCGGGGGCC
NM_032430.1:c.2179+38_2179+47delinsGGCGGGGGCC	NP_115806.1:n.2179+38_2179+47delinsGGCGGGGGCC
XM_005259327.2:c.1909+38_1909+47delinsGGCGGGGGCC	XP_005259384.1:n.1909+38_1909+47delinsGGCGGGGGCC
XM_011527395.1:c.1936+38_1936+47delinsGGCGGGGGCC	XP_011525697.1:n.1936+38_1936+47delinsGGCGGGGGCC
XR_430213.2:n.2162+38_2162+47delinsGGCGGGGGCC
XM_005259327.3:c.1909+38_1909+47delinsGGCGGGGGCC	XP_005259384.1:n.1909+38_1909+47delinsGGCGGGGGCC
XM_011527395.2:c.1651+38_1651+47delinsGGCGGGGGCC	XP_011525697.2:n.1651+38_1651+47delinsGGCGGGGGCC
XM_024451739.1:c.1954+38_1954+47delinsGGCGGGGGCC	XP_024307507.1:n.1954+38_1954+47delinsGGCGGGGGCC
XR_430213.4:n.2460+38_2460+47delinsGGCGGGGGCC
NM_032430.2:c.2179+38_2179+47delinsGGCGGGGGCC MANE Select	NP_115806.1:n.2179+38_2179+47delinsGGCGGGGGCC