Canonical Allele Identifier: CA2343355641

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088693619

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308251_55308254del , CM000681.2:g.55308251_55308254del	GRCh38
NC_000019.9:g.55819619_55819622del , CM000681.1:g.55819619_55819622del	GRCh37
NC_000019.8:g.60511431_60511434del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-388_2090-385del MANE Select	ENSP00000310649.1:n.2090-388_2090-385del
ENST00000309383.5:c.2090-388_2090-385del	ENSP00000310649.1:n.2090-388_2090-385del
ENST00000326848.7:c.1175-388_1175-385del	ENSP00000320853.7:n.1175-388_1175-385del
ENST00000590333.5:c.2138-388_2138-385del	ENSP00000468190.1:n.2138-388_2138-385del
NM_032430.1:c.2090-388_2090-385del	NP_115806.1:n.2090-388_2090-385del
XM_005259327.2:c.1820-388_1820-385del	XP_005259384.1:n.1820-388_1820-385del
XM_011527395.1:c.1847-388_1847-385del	XP_011525697.1:n.1847-388_1847-385del
XR_430213.2:n.2073-388_2073-385del
XM_005259327.3:c.1820-388_1820-385del	XP_005259384.1:n.1820-388_1820-385del
XM_011527395.2:c.1562-388_1562-385del	XP_011525697.2:n.1562-388_1562-385del
XM_024451739.1:c.1865-388_1865-385del	XP_024307507.1:n.1865-388_1865-385del
XR_430213.4:n.2371-388_2371-385del
NM_032430.2:c.2090-388_2090-385del MANE Select	NP_115806.1:n.2090-388_2090-385del