Canonical Allele Identifier: CA2343355939

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308780_55308781delinsGT , CM000681.2:g.55308780_55308781delinsGT	GRCh38
NC_000019.9:g.55820148_55820149delinsGT , CM000681.1:g.55820148_55820149delinsGT	GRCh37
NC_000019.8:g.60511960_60511961delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+52_2179+53delinsGT MANE Select	ENSP00000310649.1:n.2179+52_2179+53delinsGT
ENST00000309383.5:c.2179+52_2179+53delinsGT	ENSP00000310649.1:n.2179+52_2179+53delinsGT
ENST00000326848.7:c.1264+52_1264+53delinsGT	ENSP00000320853.7:n.1264+52_1264+53delinsGT
ENST00000590333.5:c.2227+52_2227+53delinsGT	ENSP00000468190.1:n.2227+52_2227+53delinsGT
NM_032430.1:c.2179+52_2179+53delinsGT	NP_115806.1:n.2179+52_2179+53delinsGT
XM_005259327.2:c.1909+52_1909+53delinsGT	XP_005259384.1:n.1909+52_1909+53delinsGT
XM_011527395.1:c.1936+52_1936+53delinsGT	XP_011525697.1:n.1936+52_1936+53delinsGT
XR_430213.2:n.2162+52_2162+53delinsGT
XM_005259327.3:c.1909+52_1909+53delinsGT	XP_005259384.1:n.1909+52_1909+53delinsGT
XM_011527395.2:c.1651+52_1651+53delinsGT	XP_011525697.2:n.1651+52_1651+53delinsGT
XM_024451739.1:c.1954+52_1954+53delinsGT	XP_024307507.1:n.1954+52_1954+53delinsGT
XR_430213.4:n.2460+52_2460+53delinsGT
NM_032430.2:c.2179+52_2179+53delinsGT MANE Select	NP_115806.1:n.2179+52_2179+53delinsGT