Canonical Allele Identifier: CA997262770

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088695895
• gnomAD v3: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTTTCTTACATCTCTGGTCCTTCATGGCCT
• gnomAD v4: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTTTCTTACATCTCTGGTCCTTCATGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308344_55308345insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT , CM000681.2:g.55308344_55308345insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT	GRCh38
NC_000019.9:g.55819712_55819713insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT , CM000681.1:g.55819712_55819713insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT	GRCh37
NC_000019.8:g.60511524_60511525insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-295_2090-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT MANE Select	ENSP00000310649.1:n.2090-295_2090-294insCTCTGGTCCTTCATGGCCTCT...
ENST00000309383.5:c.2090-295_2090-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT	ENSP00000310649.1:n.2090-295_2090-294insCTCTGGTCCTTCATGGCCTCT...
ENST00000326848.7:c.1175-295_1175-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT	ENSP00000320853.7:n.1175-295_1175-294insCTCTGGTCCTTCATGGCCTCT...
ENST00000590333.5:c.2138-295_2138-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT	ENSP00000468190.1:n.2138-295_2138-294insCTCTGGTCCTTCATGGCCTCT...
NM_032430.1:c.2090-295_2090-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT	NP_115806.1:n.2090-295_2090-294insCTCTGGTCCTTCATGGCCTCTGTACCT...
XM_005259327.2:c.1820-295_1820-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT	XP_005259384.1:n.1820-295_1820-294insCTCTGGTCCTTCATGGCCTCTGTA...
XM_011527395.1:c.1847-295_1847-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT	XP_011525697.1:n.1847-295_1847-294insCTCTGGTCCTTCATGGCCTCTGTA...
XR_430213.2:n.2073-295_2073-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT
XM_005259327.3:c.1820-295_1820-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT	XP_005259384.1:n.1820-295_1820-294insCTCTGGTCCTTCATGGCCTCTGTA...
XM_011527395.2:c.1562-295_1562-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT	XP_011525697.2:n.1562-295_1562-294insCTCTGGTCCTTCATGGCCTCTGTA...
XM_024451739.1:c.1865-295_1865-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT	XP_024307507.1:n.1865-295_1865-294insCTCTGGTCCTTCATGGCCTCTGTA...
XR_430213.4:n.2371-295_2371-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT
NM_032430.2:c.2090-295_2090-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT MANE Select	NP_115806.1:n.2090-295_2090-294insCTCTGGTCCTTCATGGCCTCTGTACCT...