Canonical Allele Identifier: CA2343355934

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308777_55308791delinsTGGGTGGCGGGGGGC , CM000681.2:g.55308777_55308791delinsTGGGTGGCGGGGGGC	GRCh38
NC_000019.9:g.55820145_55820159delinsTGGGTGGCGGGGGGC , CM000681.1:g.55820145_55820159delinsTGGGTGGCGGGGGGC	GRCh37
NC_000019.8:g.60511957_60511971delinsTGGGTGGCGGGGGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+49_2179+63delinsTGGGTGGCGGGGGGC MANE Select	ENSP00000310649.1:n.2179+49_2179+63delinsTGGGTGGCGGGGGGC
ENST00000309383.5:c.2179+49_2179+63delinsTGGGTGGCGGGGGGC	ENSP00000310649.1:n.2179+49_2179+63delinsTGGGTGGCGGGGGGC
ENST00000326848.7:c.1264+49_1264+63delinsTGGGTGGCGGGGGGC	ENSP00000320853.7:n.1264+49_1264+63delinsTGGGTGGCGGGGGGC
ENST00000590333.5:c.2227+49_2227+63delinsTGGGTGGCGGGGGGC	ENSP00000468190.1:n.2227+49_2227+63delinsTGGGTGGCGGGGGGC
NM_032430.1:c.2179+49_2179+63delinsTGGGTGGCGGGGGGC	NP_115806.1:n.2179+49_2179+63delinsTGGGTGGCGGGGGGC
XM_005259327.2:c.1909+49_1909+63delinsTGGGTGGCGGGGGGC	XP_005259384.1:n.1909+49_1909+63delinsTGGGTGGCGGGGGGC
XM_011527395.1:c.1936+49_1936+63delinsTGGGTGGCGGGGGGC	XP_011525697.1:n.1936+49_1936+63delinsTGGGTGGCGGGGGGC
XR_430213.2:n.2162+49_2162+63delinsTGGGTGGCGGGGGGC
XM_005259327.3:c.1909+49_1909+63delinsTGGGTGGCGGGGGGC	XP_005259384.1:n.1909+49_1909+63delinsTGGGTGGCGGGGGGC
XM_011527395.2:c.1651+49_1651+63delinsTGGGTGGCGGGGGGC	XP_011525697.2:n.1651+49_1651+63delinsTGGGTGGCGGGGGGC
XM_024451739.1:c.1954+49_1954+63delinsTGGGTGGCGGGGGGC	XP_024307507.1:n.1954+49_1954+63delinsTGGGTGGCGGGGGGC
XR_430213.4:n.2460+49_2460+63delinsTGGGTGGCGGGGGGC
NM_032430.2:c.2179+49_2179+63delinsTGGGTGGCGGGGGGC MANE Select	NP_115806.1:n.2179+49_2179+63delinsTGGGTGGCGGGGGGC