Canonical Allele Identifier: CA2343355947

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308784_55308790delinsCGGGGGG , CM000681.2:g.55308784_55308790delinsCGGGGGG	GRCh38
NC_000019.9:g.55820152_55820158delinsCGGGGGG , CM000681.1:g.55820152_55820158delinsCGGGGGG	GRCh37
NC_000019.8:g.60511964_60511970delinsCGGGGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+56_2179+62delinsCGGGGGG MANE Select	ENSP00000310649.1:n.2179+56_2179+62delinsCGGGGGG
ENST00000309383.5:c.2179+56_2179+62delinsCGGGGGG	ENSP00000310649.1:n.2179+56_2179+62delinsCGGGGGG
ENST00000326848.7:c.1264+56_1264+62delinsCGGGGGG	ENSP00000320853.7:n.1264+56_1264+62delinsCGGGGGG
ENST00000590333.5:c.2227+56_2227+62delinsCGGGGGG	ENSP00000468190.1:n.2227+56_2227+62delinsCGGGGGG
NM_032430.1:c.2179+56_2179+62delinsCGGGGGG	NP_115806.1:n.2179+56_2179+62delinsCGGGGGG
XM_005259327.2:c.1909+56_1909+62delinsCGGGGGG	XP_005259384.1:n.1909+56_1909+62delinsCGGGGGG
XM_011527395.1:c.1936+56_1936+62delinsCGGGGGG	XP_011525697.1:n.1936+56_1936+62delinsCGGGGGG
XR_430213.2:n.2162+56_2162+62delinsCGGGGGG
XM_005259327.3:c.1909+56_1909+62delinsCGGGGGG	XP_005259384.1:n.1909+56_1909+62delinsCGGGGGG
XM_011527395.2:c.1651+56_1651+62delinsCGGGGGG	XP_011525697.2:n.1651+56_1651+62delinsCGGGGGG
XM_024451739.1:c.1954+56_1954+62delinsCGGGGGG	XP_024307507.1:n.1954+56_1954+62delinsCGGGGGG
XR_430213.4:n.2460+56_2460+62delinsCGGGGGG
NM_032430.2:c.2179+56_2179+62delinsCGGGGGG MANE Select	NP_115806.1:n.2179+56_2179+62delinsCGGGGGG