Canonical Allele Identifier: CA2582275971

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308774-C-CCGTGGGTGGTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGG
• gnomAD v4: 19-55308774-C-CCGTGGGTGGTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308783_55308784insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG , CM000681.2:g.55308783_55308784insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG	GRCh38
NC_000019.9:g.55820151_55820152insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG , CM000681.1:g.55820151_55820152insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG	GRCh37
NC_000019.8:g.60511963_60511964insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+55_2179+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG MANE Select	ENSP00000310649.1:n.2179+55_2179+56insTGGGGGGCGTGGGTGGTGGGGCC...
ENST00000309383.5:c.2179+55_2179+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG	ENSP00000310649.1:n.2179+55_2179+56insTGGGGGGCGTGGGTGGTGGGGCC...
ENST00000326848.7:c.1264+55_1264+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG	ENSP00000320853.7:n.1264+55_1264+56insTGGGGGGCGTGGGTGGTGGGGCC...
ENST00000590333.5:c.2227+55_2227+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG	ENSP00000468190.1:n.2227+55_2227+56insTGGGGGGCGTGGGTGGTGGGGCC...
NM_032430.1:c.2179+55_2179+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG	NP_115806.1:n.2179+55_2179+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGT...
XM_005259327.2:c.1909+55_1909+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG	XP_005259384.1:n.1909+55_1909+56insTGGGGGGCGTGGGTGGTGGGGCCGTG...
XM_011527395.1:c.1936+55_1936+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG	XP_011525697.1:n.1936+55_1936+56insTGGGGGGCGTGGGTGGTGGGGCCGTG...
XR_430213.2:n.2162+55_2162+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG
XM_005259327.3:c.1909+55_1909+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG	XP_005259384.1:n.1909+55_1909+56insTGGGGGGCGTGGGTGGTGGGGCCGTG...
XM_011527395.2:c.1651+55_1651+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG	XP_011525697.2:n.1651+55_1651+56insTGGGGGGCGTGGGTGGTGGGGCCGTG...
XM_024451739.1:c.1954+55_1954+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG	XP_024307507.1:n.1954+55_1954+56insTGGGGGGCGTGGGTGGTGGGGCCGTG...
XR_430213.4:n.2460+55_2460+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG
NM_032430.2:c.2179+55_2179+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGG MANE Select	NP_115806.1:n.2179+55_2179+56insTGGGGGGCGTGGGTGGTGGGGCCGTGGGT...