Canonical Allele Identifier: CA2343355994

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308812_55308813delinsGT , CM000681.2:g.55308812_55308813delinsGT	GRCh38
NC_000019.9:g.55820180_55820181delinsGT , CM000681.1:g.55820180_55820181delinsGT	GRCh37
NC_000019.8:g.60511992_60511993delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+84_2179+85delinsGT MANE Select	ENSP00000310649.1:n.2179+84_2179+85delinsGT
ENST00000309383.5:c.2179+84_2179+85delinsGT	ENSP00000310649.1:n.2179+84_2179+85delinsGT
ENST00000326848.7:c.1264+84_1264+85delinsGT	ENSP00000320853.7:n.1264+84_1264+85delinsGT
ENST00000590333.5:c.2227+84_2227+85delinsGT	ENSP00000468190.1:n.2227+84_2227+85delinsGT
NM_032430.1:c.2179+84_2179+85delinsGT	NP_115806.1:n.2179+84_2179+85delinsGT
XM_005259327.2:c.1909+84_1909+85delinsGT	XP_005259384.1:n.1909+84_1909+85delinsGT
XM_011527395.1:c.1936+84_1936+85delinsGT	XP_011525697.1:n.1936+84_1936+85delinsGT
XR_430213.2:n.2162+84_2162+85delinsGT
XM_005259327.3:c.1909+84_1909+85delinsGT	XP_005259384.1:n.1909+84_1909+85delinsGT
XM_011527395.2:c.1651+84_1651+85delinsGT	XP_011525697.2:n.1651+84_1651+85delinsGT
XM_024451739.1:c.1954+84_1954+85delinsGT	XP_024307507.1:n.1954+84_1954+85delinsGT
XR_430213.4:n.2460+84_2460+85delinsGT
NM_032430.2:c.2179+84_2179+85delinsGT MANE Select	NP_115806.1:n.2179+84_2179+85delinsGT