Canonical Allele Identifier: CA633862586

Gene: BRSK1

Linked Data

• dbSNP Id: rs767878563
• gnomAD v2: 19-55820142-C-CCGTGGGTGGCGGGGGG
• gnomAD v3: 19-55308774-C-CCGTGGGTGGCGGGGGG
• gnomAD v4: 19-55308774-C-CCGTGGGTGGCGGGGGG
• MyVariant Identifiers: chr19:g.55820190_55820191insCGTGGGTGGCGGGGGG (hg19) ; chr19:g.55308822_55308823insCGTGGGTGGCGGGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308822_55308837dup , CM000681.2:g.55308822_55308837dup	GRCh38
NC_000019.9:g.55820190_55820205dup , CM000681.1:g.55820190_55820205dup	GRCh37
NC_000019.8:g.60512002_60512017dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+94_2179+109dup MANE Select	ENSP00000310649.1:n.2179+94_2179+109dup
ENST00000309383.5:c.2179+94_2179+109dup	ENSP00000310649.1:n.2179+94_2179+109dup
ENST00000326848.7:c.1264+94_1264+109dup	ENSP00000320853.7:n.1264+94_1264+109dup
ENST00000590333.5:c.2227+94_2227+109dup	ENSP00000468190.1:n.2227+94_2227+109dup
NM_032430.1:c.2179+94_2179+109dup	NP_115806.1:n.2179+94_2179+109dup
XM_005259327.2:c.1909+94_1909+109dup	XP_005259384.1:n.1909+94_1909+109dup
XM_011527395.1:c.1936+94_1936+109dup	XP_011525697.1:n.1936+94_1936+109dup
XR_430213.2:n.2162+94_2162+109dup
XM_005259327.3:c.1909+94_1909+109dup	XP_005259384.1:n.1909+94_1909+109dup
XM_011527395.2:c.1651+94_1651+109dup	XP_011525697.2:n.1651+94_1651+109dup
XM_024451739.1:c.1954+94_1954+109dup	XP_024307507.1:n.1954+94_1954+109dup
XR_430213.4:n.2460+94_2460+109dup
NM_032430.2:c.2179+94_2179+109dup MANE Select	NP_115806.1:n.2179+94_2179+109dup