Canonical Allele Identifier: CA310134883

Gene: BRSK1

Linked Data

• dbSNP Id: rs71181753
• gnomAD v3: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT
• gnomAD v4: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308314_55308364dup , CM000681.2:g.55308314_55308364dup	GRCh38
NC_000019.9:g.55819682_55819732dup , CM000681.1:g.55819682_55819732dup	GRCh37
NC_000019.8:g.60511494_60511544dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-325_2090-275dup MANE Select	ENSP00000310649.1:n.2090-325_2090-275dup
ENST00000309383.5:c.2090-325_2090-275dup	ENSP00000310649.1:n.2090-325_2090-275dup
ENST00000326848.7:c.1175-325_1175-275dup	ENSP00000320853.7:n.1175-325_1175-275dup
ENST00000590333.5:c.2138-325_2138-275dup	ENSP00000468190.1:n.2138-325_2138-275dup
NM_032430.1:c.2090-325_2090-275dup	NP_115806.1:n.2090-325_2090-275dup
XM_005259327.2:c.1820-325_1820-275dup	XP_005259384.1:n.1820-325_1820-275dup
XM_011527395.1:c.1847-325_1847-275dup	XP_011525697.1:n.1847-325_1847-275dup
XR_430213.2:n.2073-325_2073-275dup
XM_005259327.3:c.1820-325_1820-275dup	XP_005259384.1:n.1820-325_1820-275dup
XM_011527395.2:c.1562-325_1562-275dup	XP_011525697.2:n.1562-325_1562-275dup
XM_024451739.1:c.1865-325_1865-275dup	XP_024307507.1:n.1865-325_1865-275dup
XR_430213.4:n.2371-325_2371-275dup
NM_032430.2:c.2090-325_2090-275dup MANE Select	NP_115806.1:n.2090-325_2090-275dup