Canonical Allele Identifier: CA2582275969

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308756-G-GCCGT
• gnomAD v4: 19-55308756-G-GCCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308756_55308757insCCGT , CM000681.2:g.55308756_55308757insCCGT	GRCh38
NC_000019.9:g.55820124_55820125insCCGT , CM000681.1:g.55820124_55820125insCCGT	GRCh37
NC_000019.8:g.60511936_60511937insCCGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+28_2179+29insCCGT MANE Select	ENSP00000310649.1:n.2179+28_2179+29insCCGT
ENST00000309383.5:c.2179+28_2179+29insCCGT	ENSP00000310649.1:n.2179+28_2179+29insCCGT
ENST00000326848.7:c.1264+28_1264+29insCCGT	ENSP00000320853.7:n.1264+28_1264+29insCCGT
ENST00000590333.5:c.2227+28_2227+29insCCGT	ENSP00000468190.1:n.2227+28_2227+29insCCGT
NM_032430.1:c.2179+28_2179+29insCCGT	NP_115806.1:n.2179+28_2179+29insCCGT
XM_005259327.2:c.1909+28_1909+29insCCGT	XP_005259384.1:n.1909+28_1909+29insCCGT
XM_011527395.1:c.1936+28_1936+29insCCGT	XP_011525697.1:n.1936+28_1936+29insCCGT
XR_430213.2:n.2162+28_2162+29insCCGT
XM_005259327.3:c.1909+28_1909+29insCCGT	XP_005259384.1:n.1909+28_1909+29insCCGT
XM_011527395.2:c.1651+28_1651+29insCCGT	XP_011525697.2:n.1651+28_1651+29insCCGT
XM_024451739.1:c.1954+28_1954+29insCCGT	XP_024307507.1:n.1954+28_1954+29insCCGT
XR_430213.4:n.2460+28_2460+29insCCGT
NM_032430.2:c.2179+28_2179+29insCCGT MANE Select	NP_115806.1:n.2179+28_2179+29insCCGT