Canonical Allele Identifier: CA2343355528

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088687827

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308007_55308008del , CM000681.2:g.55308007_55308008del	GRCh38
NC_000019.9:g.55819375_55819376del , CM000681.1:g.55819375_55819376del	GRCh37
NC_000019.8:g.60511187_60511188del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-632_2090-631del MANE Select	ENSP00000310649.1:n.2090-632_2090-631del
ENST00000309383.5:c.2090-632_2090-631del	ENSP00000310649.1:n.2090-632_2090-631del
ENST00000326848.7:c.1175-632_1175-631del	ENSP00000320853.7:n.1175-632_1175-631del
ENST00000590333.5:c.2138-632_2138-631del	ENSP00000468190.1:n.2138-632_2138-631del
NM_032430.1:c.2090-632_2090-631del	NP_115806.1:n.2090-632_2090-631del
XM_005259327.2:c.1820-632_1820-631del	XP_005259384.1:n.1820-632_1820-631del
XM_011527395.1:c.1847-632_1847-631del	XP_011525697.1:n.1847-632_1847-631del
XR_430213.2:n.2073-632_2073-631del
XM_005259327.3:c.1820-632_1820-631del	XP_005259384.1:n.1820-632_1820-631del
XM_011527395.2:c.1562-632_1562-631del	XP_011525697.2:n.1562-632_1562-631del
XM_024451739.1:c.1865-632_1865-631del	XP_024307507.1:n.1865-632_1865-631del
XR_430213.4:n.2371-632_2371-631del
NM_032430.2:c.2090-632_2090-631del MANE Select	NP_115806.1:n.2090-632_2090-631del