Canonical Allele Identifier: CA2343355733

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308463_55308466delinsTAGC , CM000681.2:g.55308463_55308466delinsTAGC	GRCh38
NC_000019.9:g.55819831_55819834delinsTAGC , CM000681.1:g.55819831_55819834delinsTAGC	GRCh37
NC_000019.8:g.60511643_60511646delinsTAGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-176_2090-173delinsTAGC MANE Select	ENSP00000310649.1:n.2090-176_2090-173delinsTAGC
ENST00000309383.5:c.2090-176_2090-173delinsTAGC	ENSP00000310649.1:n.2090-176_2090-173delinsTAGC
ENST00000326848.7:c.1175-176_1175-173delinsTAGC	ENSP00000320853.7:n.1175-176_1175-173delinsTAGC
ENST00000590333.5:c.2138-176_2138-173delinsTAGC	ENSP00000468190.1:n.2138-176_2138-173delinsTAGC
NM_032430.1:c.2090-176_2090-173delinsTAGC	NP_115806.1:n.2090-176_2090-173delinsTAGC
XM_005259327.2:c.1820-176_1820-173delinsTAGC	XP_005259384.1:n.1820-176_1820-173delinsTAGC
XM_011527395.1:c.1847-176_1847-173delinsTAGC	XP_011525697.1:n.1847-176_1847-173delinsTAGC
XR_430213.2:n.2073-176_2073-173delinsTAGC
XM_005259327.3:c.1820-176_1820-173delinsTAGC	XP_005259384.1:n.1820-176_1820-173delinsTAGC
XM_011527395.2:c.1562-176_1562-173delinsTAGC	XP_011525697.2:n.1562-176_1562-173delinsTAGC
XM_024451739.1:c.1865-176_1865-173delinsTAGC	XP_024307507.1:n.1865-176_1865-173delinsTAGC
XR_430213.4:n.2371-176_2371-173delinsTAGC
NM_032430.2:c.2090-176_2090-173delinsTAGC MANE Select	NP_115806.1:n.2090-176_2090-173delinsTAGC