Canonical Allele Identifier: CA2343356014

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308825_55308834delinsTGGGTGGCGG , CM000681.2:g.55308825_55308834delinsTGGGTGGCGG	GRCh38
NC_000019.9:g.55820193_55820202delinsTGGGTGGCGG , CM000681.1:g.55820193_55820202delinsTGGGTGGCGG	GRCh37
NC_000019.8:g.60512005_60512014delinsTGGGTGGCGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+97_2179+106delinsTGGGTGGCGG MANE Select	ENSP00000310649.1:n.2179+97_2179+106delinsTGGGTGGCGG
ENST00000309383.5:c.2179+97_2179+106delinsTGGGTGGCGG	ENSP00000310649.1:n.2179+97_2179+106delinsTGGGTGGCGG
ENST00000326848.7:c.1264+97_1264+106delinsTGGGTGGCGG	ENSP00000320853.7:n.1264+97_1264+106delinsTGGGTGGCGG
ENST00000590333.5:c.2227+97_2227+106delinsTGGGTGGCGG	ENSP00000468190.1:n.2227+97_2227+106delinsTGGGTGGCGG
NM_032430.1:c.2179+97_2179+106delinsTGGGTGGCGG	NP_115806.1:n.2179+97_2179+106delinsTGGGTGGCGG
XM_005259327.2:c.1909+97_1909+106delinsTGGGTGGCGG	XP_005259384.1:n.1909+97_1909+106delinsTGGGTGGCGG
XM_011527395.1:c.1936+97_1936+106delinsTGGGTGGCGG	XP_011525697.1:n.1936+97_1936+106delinsTGGGTGGCGG
XR_430213.2:n.2162+97_2162+106delinsTGGGTGGCGG
XM_005259327.3:c.1909+97_1909+106delinsTGGGTGGCGG	XP_005259384.1:n.1909+97_1909+106delinsTGGGTGGCGG
XM_011527395.2:c.1651+97_1651+106delinsTGGGTGGCGG	XP_011525697.2:n.1651+97_1651+106delinsTGGGTGGCGG
XM_024451739.1:c.1954+97_1954+106delinsTGGGTGGCGG	XP_024307507.1:n.1954+97_1954+106delinsTGGGTGGCGG
XR_430213.4:n.2460+97_2460+106delinsTGGGTGGCGG
NM_032430.2:c.2179+97_2179+106delinsTGGGTGGCGG MANE Select	NP_115806.1:n.2179+97_2179+106delinsTGGGTGGCGG