Canonical Allele Identifier: CA997262920

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088713631
• gnomAD v3: 19-55308794-GGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGT-G
• gnomAD v4: 19-55308794-GGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308797_55308827del , CM000681.2:g.55308797_55308827del	GRCh38
NC_000019.9:g.55820165_55820195del , CM000681.1:g.55820165_55820195del	GRCh37
NC_000019.8:g.60511977_60512007del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+69_2179+99del MANE Select	ENSP00000310649.1:n.2179+69_2179+99del
ENST00000309383.5:c.2179+69_2179+99del	ENSP00000310649.1:n.2179+69_2179+99del
ENST00000326848.7:c.1264+69_1264+99del	ENSP00000320853.7:n.1264+69_1264+99del
ENST00000590333.5:c.2227+69_2227+99del	ENSP00000468190.1:n.2227+69_2227+99del
NM_032430.1:c.2179+69_2179+99del	NP_115806.1:n.2179+69_2179+99del
XM_005259327.2:c.1909+69_1909+99del	XP_005259384.1:n.1909+69_1909+99del
XM_011527395.1:c.1936+69_1936+99del	XP_011525697.1:n.1936+69_1936+99del
XR_430213.2:n.2162+69_2162+99del
XM_005259327.3:c.1909+69_1909+99del	XP_005259384.1:n.1909+69_1909+99del
XM_011527395.2:c.1651+69_1651+99del	XP_011525697.2:n.1651+69_1651+99del
XM_024451739.1:c.1954+69_1954+99del	XP_024307507.1:n.1954+69_1954+99del
XR_430213.4:n.2460+69_2460+99del
NM_032430.2:c.2179+69_2179+99del MANE Select	NP_115806.1:n.2179+69_2179+99del