Canonical Allele Identifier: CA2343355945

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308784_55308785delinsCG , CM000681.2:g.55308784_55308785delinsCG	GRCh38
NC_000019.9:g.55820152_55820153delinsCG , CM000681.1:g.55820152_55820153delinsCG	GRCh37
NC_000019.8:g.60511964_60511965delinsCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+56_2179+57delinsCG MANE Select	ENSP00000310649.1:n.2179+56_2179+57delinsCG
ENST00000309383.5:c.2179+56_2179+57delinsCG	ENSP00000310649.1:n.2179+56_2179+57delinsCG
ENST00000326848.7:c.1264+56_1264+57delinsCG	ENSP00000320853.7:n.1264+56_1264+57delinsCG
ENST00000590333.5:c.2227+56_2227+57delinsCG	ENSP00000468190.1:n.2227+56_2227+57delinsCG
NM_032430.1:c.2179+56_2179+57delinsCG	NP_115806.1:n.2179+56_2179+57delinsCG
XM_005259327.2:c.1909+56_1909+57delinsCG	XP_005259384.1:n.1909+56_1909+57delinsCG
XM_011527395.1:c.1936+56_1936+57delinsCG	XP_011525697.1:n.1936+56_1936+57delinsCG
XR_430213.2:n.2162+56_2162+57delinsCG
XM_005259327.3:c.1909+56_1909+57delinsCG	XP_005259384.1:n.1909+56_1909+57delinsCG
XM_011527395.2:c.1651+56_1651+57delinsCG	XP_011525697.2:n.1651+56_1651+57delinsCG
XM_024451739.1:c.1954+56_1954+57delinsCG	XP_024307507.1:n.1954+56_1954+57delinsCG
XR_430213.4:n.2460+56_2460+57delinsCG
NM_032430.2:c.2179+56_2179+57delinsCG MANE Select	NP_115806.1:n.2179+56_2179+57delinsCG