Canonical Allele Identifier: CA997262676

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088687618
• gnomAD v3: 19-55308004-T-TG
• gnomAD v4: 19-55308004-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308004_55308005insG , CM000681.2:g.55308004_55308005insG	GRCh38
NC_000019.9:g.55819372_55819373insG , CM000681.1:g.55819372_55819373insG	GRCh37
NC_000019.8:g.60511184_60511185insG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-635_2090-634insG MANE Select	ENSP00000310649.1:n.2090-635_2090-634insG
ENST00000309383.5:c.2090-635_2090-634insG	ENSP00000310649.1:n.2090-635_2090-634insG
ENST00000326848.7:c.1175-635_1175-634insG	ENSP00000320853.7:n.1175-635_1175-634insG
ENST00000590333.5:c.2138-635_2138-634insG	ENSP00000468190.1:n.2138-635_2138-634insG
NM_032430.1:c.2090-635_2090-634insG	NP_115806.1:n.2090-635_2090-634insG
XM_005259327.2:c.1820-635_1820-634insG	XP_005259384.1:n.1820-635_1820-634insG
XM_011527395.1:c.1847-635_1847-634insG	XP_011525697.1:n.1847-635_1847-634insG
XR_430213.2:n.2073-635_2073-634insG
XM_005259327.3:c.1820-635_1820-634insG	XP_005259384.1:n.1820-635_1820-634insG
XM_011527395.2:c.1562-635_1562-634insG	XP_011525697.2:n.1562-635_1562-634insG
XM_024451739.1:c.1865-635_1865-634insG	XP_024307507.1:n.1865-635_1865-634insG
XR_430213.4:n.2371-635_2371-634insG
NM_032430.2:c.2090-635_2090-634insG MANE Select	NP_115806.1:n.2090-635_2090-634insG