Canonical Allele Identifier: CA997262671

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088686181
• gnomAD v3: 19-55307953-C-CAAAAGAAAAAAGA
• gnomAD v4: 19-55307953-C-CAAAAGAAAAAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55307963_55307975dup , CM000681.2:g.55307963_55307975dup	GRCh38
NC_000019.9:g.55819331_55819343dup , CM000681.1:g.55819331_55819343dup	GRCh37
NC_000019.8:g.60511143_60511155dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-676_2090-664dup MANE Select	ENSP00000310649.1:n.2090-676_2090-664dup
ENST00000309383.5:c.2090-676_2090-664dup	ENSP00000310649.1:n.2090-676_2090-664dup
ENST00000326848.7:c.1175-676_1175-664dup	ENSP00000320853.7:n.1175-676_1175-664dup
ENST00000590333.5:c.2138-676_2138-664dup	ENSP00000468190.1:n.2138-676_2138-664dup
NM_032430.1:c.2090-676_2090-664dup	NP_115806.1:n.2090-676_2090-664dup
XM_005259327.2:c.1820-676_1820-664dup	XP_005259384.1:n.1820-676_1820-664dup
XM_011527395.1:c.1847-676_1847-664dup	XP_011525697.1:n.1847-676_1847-664dup
XR_430213.2:n.2073-676_2073-664dup
XM_005259327.3:c.1820-676_1820-664dup	XP_005259384.1:n.1820-676_1820-664dup
XM_011527395.2:c.1562-676_1562-664dup	XP_011525697.2:n.1562-676_1562-664dup
XM_024451739.1:c.1865-676_1865-664dup	XP_024307507.1:n.1865-676_1865-664dup
XR_430213.4:n.2371-676_2371-664dup
NM_032430.2:c.2090-676_2090-664dup MANE Select	NP_115806.1:n.2090-676_2090-664dup