Canonical Allele Identifier: CA883744657

Gene: BRSK1

Linked Data

• dbSNP Id: rs1474416440
• gnomAD v3: 19-55308768-C-CG
• gnomAD v4: 19-55308768-C-CG
• MyVariant Identifiers: chr19:g.55820136_55820137insG (hg19) ; chr19:g.55308768_55308769insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308773dup , CM000681.2:g.55308773dup	GRCh38
NC_000019.9:g.55820141dup , CM000681.1:g.55820141dup	GRCh37
NC_000019.8:g.60511953dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+45dup MANE Select	ENSP00000310649.1:n.2179+45dup
ENST00000309383.5:c.2179+45dup	ENSP00000310649.1:n.2179+45dup
ENST00000326848.7:c.1264+45dup	ENSP00000320853.7:n.1264+45dup
ENST00000590333.5:c.2227+45dup	ENSP00000468190.1:n.2227+45dup
NM_032430.1:c.2179+45dup	NP_115806.1:n.2179+45dup
XM_005259327.2:c.1909+45dup	XP_005259384.1:n.1909+45dup
XM_011527395.1:c.1936+45dup	XP_011525697.1:n.1936+45dup
XR_430213.2:n.2162+45dup
XM_005259327.3:c.1909+45dup	XP_005259384.1:n.1909+45dup
XM_011527395.2:c.1651+45dup	XP_011525697.2:n.1651+45dup
XM_024451739.1:c.1954+45dup	XP_024307507.1:n.1954+45dup
XR_430213.4:n.2460+45dup
NM_032430.2:c.2179+45dup MANE Select	NP_115806.1:n.2179+45dup