Canonical Allele Identifier: CA997262774

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088695813
• gnomAD v3: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTTTCTCACATTTCTGGTCCTTCATGGCCT
• gnomAD v4: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTTTCTCACATTTCTGGTCCTTCATGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308339_55308340insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT , CM000681.2:g.55308339_55308340insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT	GRCh38
NC_000019.9:g.55819707_55819708insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT , CM000681.1:g.55819707_55819708insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT	GRCh37
NC_000019.8:g.60511519_60511520insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-300_2090-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT MANE Select	ENSP00000310649.1:n.2090-300_2090-299insCACATTTCTGGTCCTTCATGG...
ENST00000309383.5:c.2090-300_2090-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT	ENSP00000310649.1:n.2090-300_2090-299insCACATTTCTGGTCCTTCATGG...
ENST00000326848.7:c.1175-300_1175-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT	ENSP00000320853.7:n.1175-300_1175-299insCACATTTCTGGTCCTTCATGG...
ENST00000590333.5:c.2138-300_2138-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT	ENSP00000468190.1:n.2138-300_2138-299insCACATTTCTGGTCCTTCATGG...
NM_032430.1:c.2090-300_2090-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT	NP_115806.1:n.2090-300_2090-299insCACATTTCTGGTCCTTCATGGCCTCTG...
XM_005259327.2:c.1820-300_1820-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT	XP_005259384.1:n.1820-300_1820-299insCACATTTCTGGTCCTTCATGGCCT...
XM_011527395.1:c.1847-300_1847-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT	XP_011525697.1:n.1847-300_1847-299insCACATTTCTGGTCCTTCATGGCCT...
XR_430213.2:n.2073-300_2073-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT
XM_005259327.3:c.1820-300_1820-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT	XP_005259384.1:n.1820-300_1820-299insCACATTTCTGGTCCTTCATGGCCT...
XM_011527395.2:c.1562-300_1562-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT	XP_011525697.2:n.1562-300_1562-299insCACATTTCTGGTCCTTCATGGCCT...
XM_024451739.1:c.1865-300_1865-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT	XP_024307507.1:n.1865-300_1865-299insCACATTTCTGGTCCTTCATGGCCT...
XR_430213.4:n.2371-300_2371-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT
NM_032430.2:c.2090-300_2090-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT MANE Select	NP_115806.1:n.2090-300_2090-299insCACATTTCTGGTCCTTCATGGCCTCTG...