Canonical Allele Identifier: CA2343355540

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308023_55308025delinsGGT , CM000681.2:g.55308023_55308025delinsGGT	GRCh38
NC_000019.9:g.55819391_55819393delinsGGT , CM000681.1:g.55819391_55819393delinsGGT	GRCh37
NC_000019.8:g.60511203_60511205delinsGGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-616_2090-614delinsGGT MANE Select	ENSP00000310649.1:n.2090-616_2090-614delinsGGT
ENST00000309383.5:c.2090-616_2090-614delinsGGT	ENSP00000310649.1:n.2090-616_2090-614delinsGGT
ENST00000326848.7:c.1175-616_1175-614delinsGGT	ENSP00000320853.7:n.1175-616_1175-614delinsGGT
ENST00000590333.5:c.2138-616_2138-614delinsGGT	ENSP00000468190.1:n.2138-616_2138-614delinsGGT
NM_032430.1:c.2090-616_2090-614delinsGGT	NP_115806.1:n.2090-616_2090-614delinsGGT
XM_005259327.2:c.1820-616_1820-614delinsGGT	XP_005259384.1:n.1820-616_1820-614delinsGGT
XM_011527395.1:c.1847-616_1847-614delinsGGT	XP_011525697.1:n.1847-616_1847-614delinsGGT
XR_430213.2:n.2073-616_2073-614delinsGGT
XM_005259327.3:c.1820-616_1820-614delinsGGT	XP_005259384.1:n.1820-616_1820-614delinsGGT
XM_011527395.2:c.1562-616_1562-614delinsGGT	XP_011525697.2:n.1562-616_1562-614delinsGGT
XM_024451739.1:c.1865-616_1865-614delinsGGT	XP_024307507.1:n.1865-616_1865-614delinsGGT
XR_430213.4:n.2371-616_2371-614delinsGGT
NM_032430.2:c.2090-616_2090-614delinsGGT MANE Select	NP_115806.1:n.2090-616_2090-614delinsGGT