Canonical Allele Identifier: CA2343355962

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308792_55308793delinsGT , CM000681.2:g.55308792_55308793delinsGT	GRCh38
NC_000019.9:g.55820160_55820161delinsGT , CM000681.1:g.55820160_55820161delinsGT	GRCh37
NC_000019.8:g.60511972_60511973delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+64_2179+65delinsGT MANE Select	ENSP00000310649.1:n.2179+64_2179+65delinsGT
ENST00000309383.5:c.2179+64_2179+65delinsGT	ENSP00000310649.1:n.2179+64_2179+65delinsGT
ENST00000326848.7:c.1264+64_1264+65delinsGT	ENSP00000320853.7:n.1264+64_1264+65delinsGT
ENST00000590333.5:c.2227+64_2227+65delinsGT	ENSP00000468190.1:n.2227+64_2227+65delinsGT
NM_032430.1:c.2179+64_2179+65delinsGT	NP_115806.1:n.2179+64_2179+65delinsGT
XM_005259327.2:c.1909+64_1909+65delinsGT	XP_005259384.1:n.1909+64_1909+65delinsGT
XM_011527395.1:c.1936+64_1936+65delinsGT	XP_011525697.1:n.1936+64_1936+65delinsGT
XR_430213.2:n.2162+64_2162+65delinsGT
XM_005259327.3:c.1909+64_1909+65delinsGT	XP_005259384.1:n.1909+64_1909+65delinsGT
XM_011527395.2:c.1651+64_1651+65delinsGT	XP_011525697.2:n.1651+64_1651+65delinsGT
XM_024451739.1:c.1954+64_1954+65delinsGT	XP_024307507.1:n.1954+64_1954+65delinsGT
XR_430213.4:n.2460+64_2460+65delinsGT
NM_032430.2:c.2179+64_2179+65delinsGT MANE Select	NP_115806.1:n.2179+64_2179+65delinsGT