Canonical Allele Identifier: CA997262928

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088714769
• gnomAD v3: 19-55308806-G-GTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC
• gnomAD v4: 19-55308806-G-GTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308806_55308807insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC , CM000681.2:g.55308806_55308807insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC	GRCh38
NC_000019.9:g.55820174_55820175insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC , CM000681.1:g.55820174_55820175insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC	GRCh37
NC_000019.8:g.60511986_60511987insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+78_2179+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC MANE Select	ENSP00000310649.1:n.2179+78_2179+79insTGGGTGGCGGGGGGCGTGGGTGG...
ENST00000309383.5:c.2179+78_2179+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC	ENSP00000310649.1:n.2179+78_2179+79insTGGGTGGCGGGGGGCGTGGGTGG...
ENST00000326848.7:c.1264+78_1264+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC	ENSP00000320853.7:n.1264+78_1264+79insTGGGTGGCGGGGGGCGTGGGTGG...
ENST00000590333.5:c.2227+78_2227+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC	ENSP00000468190.1:n.2227+78_2227+79insTGGGTGGCGGGGGGCGTGGGTGG...
NM_032430.1:c.2179+78_2179+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC	NP_115806.1:n.2179+78_2179+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGG...
XM_005259327.2:c.1909+78_1909+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC	XP_005259384.1:n.1909+78_1909+79insTGGGTGGCGGGGGGCGTGGGTGGCGG...
XM_011527395.1:c.1936+78_1936+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC	XP_011525697.1:n.1936+78_1936+79insTGGGTGGCGGGGGGCGTGGGTGGCGG...
XR_430213.2:n.2162+78_2162+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC
XM_005259327.3:c.1909+78_1909+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC	XP_005259384.1:n.1909+78_1909+79insTGGGTGGCGGGGGGCGTGGGTGGCGG...
XM_011527395.2:c.1651+78_1651+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC	XP_011525697.2:n.1651+78_1651+79insTGGGTGGCGGGGGGCGTGGGTGGCGG...
XM_024451739.1:c.1954+78_1954+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC	XP_024307507.1:n.1954+78_1954+79insTGGGTGGCGGGGGGCGTGGGTGGCGG...
XR_430213.4:n.2460+78_2460+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC
NM_032430.2:c.2179+78_2179+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGGC MANE Select	NP_115806.1:n.2179+78_2179+79insTGGGTGGCGGGGGGCGTGGGTGGCGGGGG...