Canonical Allele Identifier: CA2343356000

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308817_55308823delinsGGGGGGC , CM000681.2:g.55308817_55308823delinsGGGGGGC	GRCh38
NC_000019.9:g.55820185_55820191delinsGGGGGGC , CM000681.1:g.55820185_55820191delinsGGGGGGC	GRCh37
NC_000019.8:g.60511997_60512003delinsGGGGGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+89_2179+95delinsGGGGGGC MANE Select	ENSP00000310649.1:n.2179+89_2179+95delinsGGGGGGC
ENST00000309383.5:c.2179+89_2179+95delinsGGGGGGC	ENSP00000310649.1:n.2179+89_2179+95delinsGGGGGGC
ENST00000326848.7:c.1264+89_1264+95delinsGGGGGGC	ENSP00000320853.7:n.1264+89_1264+95delinsGGGGGGC
ENST00000590333.5:c.2227+89_2227+95delinsGGGGGGC	ENSP00000468190.1:n.2227+89_2227+95delinsGGGGGGC
NM_032430.1:c.2179+89_2179+95delinsGGGGGGC	NP_115806.1:n.2179+89_2179+95delinsGGGGGGC
XM_005259327.2:c.1909+89_1909+95delinsGGGGGGC	XP_005259384.1:n.1909+89_1909+95delinsGGGGGGC
XM_011527395.1:c.1936+89_1936+95delinsGGGGGGC	XP_011525697.1:n.1936+89_1936+95delinsGGGGGGC
XR_430213.2:n.2162+89_2162+95delinsGGGGGGC
XM_005259327.3:c.1909+89_1909+95delinsGGGGGGC	XP_005259384.1:n.1909+89_1909+95delinsGGGGGGC
XM_011527395.2:c.1651+89_1651+95delinsGGGGGGC	XP_011525697.2:n.1651+89_1651+95delinsGGGGGGC
XM_024451739.1:c.1954+89_1954+95delinsGGGGGGC	XP_024307507.1:n.1954+89_1954+95delinsGGGGGGC
XR_430213.4:n.2460+89_2460+95delinsGGGGGGC
NM_032430.2:c.2179+89_2179+95delinsGGGGGGC MANE Select	NP_115806.1:n.2179+89_2179+95delinsGGGGGGC