Canonical Allele Identifier: CA310134606

Gene: BRSK1

Linked Data

• dbSNP Id: rs368155855
• MyVariant Identifiers: chr19:g.55819384_55819392del (hg19) ; chr19:g.55308016_55308024del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308016_55308024del , CM000681.2:g.55308016_55308024del	GRCh38
NC_000019.9:g.55819384_55819392del , CM000681.1:g.55819384_55819392del	GRCh37
NC_000019.8:g.60511196_60511204del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-623_2090-615del MANE Select	ENSP00000310649.1:n.2090-623_2090-615del
ENST00000309383.5:c.2090-623_2090-615del	ENSP00000310649.1:n.2090-623_2090-615del
ENST00000326848.7:c.1175-623_1175-615del	ENSP00000320853.7:n.1175-623_1175-615del
ENST00000590333.5:c.2138-623_2138-615del	ENSP00000468190.1:n.2138-623_2138-615del
NM_032430.1:c.2090-623_2090-615del	NP_115806.1:n.2090-623_2090-615del
XM_005259327.2:c.1820-623_1820-615del	XP_005259384.1:n.1820-623_1820-615del
XM_011527395.1:c.1847-623_1847-615del	XP_011525697.1:n.1847-623_1847-615del
XR_430213.2:n.2073-623_2073-615del
XM_005259327.3:c.1820-623_1820-615del	XP_005259384.1:n.1820-623_1820-615del
XM_011527395.2:c.1562-623_1562-615del	XP_011525697.2:n.1562-623_1562-615del
XM_024451739.1:c.1865-623_1865-615del	XP_024307507.1:n.1865-623_1865-615del
XR_430213.4:n.2371-623_2371-615del
NM_032430.2:c.2090-623_2090-615del MANE Select	NP_115806.1:n.2090-623_2090-615del