Canonical Allele Identifier: CA2343355519

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55307997_55307998delinsCT , CM000681.2:g.55307997_55307998delinsCT	GRCh38
NC_000019.9:g.55819365_55819366delinsCT , CM000681.1:g.55819365_55819366delinsCT	GRCh37
NC_000019.8:g.60511177_60511178delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-642_2090-641delinsCT MANE Select	ENSP00000310649.1:n.2090-642_2090-641delinsCT
ENST00000309383.5:c.2090-642_2090-641delinsCT	ENSP00000310649.1:n.2090-642_2090-641delinsCT
ENST00000326848.7:c.1175-642_1175-641delinsCT	ENSP00000320853.7:n.1175-642_1175-641delinsCT
ENST00000590333.5:c.2138-642_2138-641delinsCT	ENSP00000468190.1:n.2138-642_2138-641delinsCT
NM_032430.1:c.2090-642_2090-641delinsCT	NP_115806.1:n.2090-642_2090-641delinsCT
XM_005259327.2:c.1820-642_1820-641delinsCT	XP_005259384.1:n.1820-642_1820-641delinsCT
XM_011527395.1:c.1847-642_1847-641delinsCT	XP_011525697.1:n.1847-642_1847-641delinsCT
XR_430213.2:n.2073-642_2073-641delinsCT
XM_005259327.3:c.1820-642_1820-641delinsCT	XP_005259384.1:n.1820-642_1820-641delinsCT
XM_011527395.2:c.1562-642_1562-641delinsCT	XP_011525697.2:n.1562-642_1562-641delinsCT
XM_024451739.1:c.1865-642_1865-641delinsCT	XP_024307507.1:n.1865-642_1865-641delinsCT
XR_430213.4:n.2371-642_2371-641delinsCT
NM_032430.2:c.2090-642_2090-641delinsCT MANE Select	NP_115806.1:n.2090-642_2090-641delinsCT