Canonical Allele Identifier: CA997262904

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088712532
• gnomAD v3: 19-55308784-C-CGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGT
• gnomAD v4: 19-55308784-C-CGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308805_55308806insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG , CM000681.2:g.55308805_55308806insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG	GRCh38
NC_000019.9:g.55820173_55820174insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG , CM000681.1:g.55820173_55820174insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG	GRCh37
NC_000019.8:g.60511985_60511986insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+77_2179+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG MANE Select	ENSP00000310649.1:n.2179+77_2179+78insCCGTGGGTGGTGGGGGGCGTGGG...
ENST00000309383.5:c.2179+77_2179+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG	ENSP00000310649.1:n.2179+77_2179+78insCCGTGGGTGGTGGGGGGCGTGGG...
ENST00000326848.7:c.1264+77_1264+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG	ENSP00000320853.7:n.1264+77_1264+78insCCGTGGGTGGTGGGGGGCGTGGG...
ENST00000590333.5:c.2227+77_2227+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG	ENSP00000468190.1:n.2227+77_2227+78insCCGTGGGTGGTGGGGGGCGTGGG...
NM_032430.1:c.2179+77_2179+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG	NP_115806.1:n.2179+77_2179+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGG...
XM_005259327.2:c.1909+77_1909+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG	XP_005259384.1:n.1909+77_1909+78insCCGTGGGTGGTGGGGGGCGTGGGTGG...
XM_011527395.1:c.1936+77_1936+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG	XP_011525697.1:n.1936+77_1936+78insCCGTGGGTGGTGGGGGGCGTGGGTGG...
XR_430213.2:n.2162+77_2162+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG
XM_005259327.3:c.1909+77_1909+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG	XP_005259384.1:n.1909+77_1909+78insCCGTGGGTGGTGGGGGGCGTGGGTGG...
XM_011527395.2:c.1651+77_1651+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG	XP_011525697.2:n.1651+77_1651+78insCCGTGGGTGGTGGGGGGCGTGGGTGG...
XM_024451739.1:c.1954+77_1954+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG	XP_024307507.1:n.1954+77_1954+78insCCGTGGGTGGTGGGGGGCGTGGGTGG...
XR_430213.4:n.2460+77_2460+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG
NM_032430.2:c.2179+77_2179+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGG MANE Select	NP_115806.1:n.2179+77_2179+78insCCGTGGGTGGTGGGGGGCGTGGGTGGCGG...