Canonical Allele Identifier: CA2343355923

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308772_55308781delinsGGCCGTGGGT , CM000681.2:g.55308772_55308781delinsGGCCGTGGGT	GRCh38
NC_000019.9:g.55820140_55820149delinsGGCCGTGGGT , CM000681.1:g.55820140_55820149delinsGGCCGTGGGT	GRCh37
NC_000019.8:g.60511952_60511961delinsGGCCGTGGGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+44_2179+53delinsGGCCGTGGGT MANE Select	ENSP00000310649.1:n.2179+44_2179+53delinsGGCCGTGGGT
ENST00000309383.5:c.2179+44_2179+53delinsGGCCGTGGGT	ENSP00000310649.1:n.2179+44_2179+53delinsGGCCGTGGGT
ENST00000326848.7:c.1264+44_1264+53delinsGGCCGTGGGT	ENSP00000320853.7:n.1264+44_1264+53delinsGGCCGTGGGT
ENST00000590333.5:c.2227+44_2227+53delinsGGCCGTGGGT	ENSP00000468190.1:n.2227+44_2227+53delinsGGCCGTGGGT
NM_032430.1:c.2179+44_2179+53delinsGGCCGTGGGT	NP_115806.1:n.2179+44_2179+53delinsGGCCGTGGGT
XM_005259327.2:c.1909+44_1909+53delinsGGCCGTGGGT	XP_005259384.1:n.1909+44_1909+53delinsGGCCGTGGGT
XM_011527395.1:c.1936+44_1936+53delinsGGCCGTGGGT	XP_011525697.1:n.1936+44_1936+53delinsGGCCGTGGGT
XR_430213.2:n.2162+44_2162+53delinsGGCCGTGGGT
XM_005259327.3:c.1909+44_1909+53delinsGGCCGTGGGT	XP_005259384.1:n.1909+44_1909+53delinsGGCCGTGGGT
XM_011527395.2:c.1651+44_1651+53delinsGGCCGTGGGT	XP_011525697.2:n.1651+44_1651+53delinsGGCCGTGGGT
XM_024451739.1:c.1954+44_1954+53delinsGGCCGTGGGT	XP_024307507.1:n.1954+44_1954+53delinsGGCCGTGGGT
XR_430213.4:n.2460+44_2460+53delinsGGCCGTGGGT
NM_032430.2:c.2179+44_2179+53delinsGGCCGTGGGT MANE Select	NP_115806.1:n.2179+44_2179+53delinsGGCCGTGGGT