Canonical Allele Identifier: CA2343355552

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308037_55308039delinsTTG , CM000681.2:g.55308037_55308039delinsTTG	GRCh38
NC_000019.9:g.55819405_55819407delinsTTG , CM000681.1:g.55819405_55819407delinsTTG	GRCh37
NC_000019.8:g.60511217_60511219delinsTTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-602_2090-600delinsTTG MANE Select	ENSP00000310649.1:n.2090-602_2090-600delinsTTG
ENST00000309383.5:c.2090-602_2090-600delinsTTG	ENSP00000310649.1:n.2090-602_2090-600delinsTTG
ENST00000326848.7:c.1175-602_1175-600delinsTTG	ENSP00000320853.7:n.1175-602_1175-600delinsTTG
ENST00000590333.5:c.2138-602_2138-600delinsTTG	ENSP00000468190.1:n.2138-602_2138-600delinsTTG
NM_032430.1:c.2090-602_2090-600delinsTTG	NP_115806.1:n.2090-602_2090-600delinsTTG
XM_005259327.2:c.1820-602_1820-600delinsTTG	XP_005259384.1:n.1820-602_1820-600delinsTTG
XM_011527395.1:c.1847-602_1847-600delinsTTG	XP_011525697.1:n.1847-602_1847-600delinsTTG
XR_430213.2:n.2073-602_2073-600delinsTTG
XM_005259327.3:c.1820-602_1820-600delinsTTG	XP_005259384.1:n.1820-602_1820-600delinsTTG
XM_011527395.2:c.1562-602_1562-600delinsTTG	XP_011525697.2:n.1562-602_1562-600delinsTTG
XM_024451739.1:c.1865-602_1865-600delinsTTG	XP_024307507.1:n.1865-602_1865-600delinsTTG
XR_430213.4:n.2371-602_2371-600delinsTTG
NM_032430.2:c.2090-602_2090-600delinsTTG MANE Select	NP_115806.1:n.2090-602_2090-600delinsTTG