Canonical Allele Identifier: CA997262738

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTTTCTTCCATTTCTGGTCCTTCATGGCCT
• gnomAD v4: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTTTCTTCCATTTCTGGTCCTTCATGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308340_55308341insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT , CM000681.2:g.55308340_55308341insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	GRCh38
NC_000019.9:g.55819708_55819709insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT , CM000681.1:g.55819708_55819709insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	GRCh37
NC_000019.8:g.60511520_60511521insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-299_2090-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT MANE Select	ENSP00000310649.1:n.2090-299_2090-298insCCATTTCTGGTCCTTCATGGC...
ENST00000309383.5:c.2090-299_2090-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	ENSP00000310649.1:n.2090-299_2090-298insCCATTTCTGGTCCTTCATGGC...
ENST00000326848.7:c.1175-299_1175-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	ENSP00000320853.7:n.1175-299_1175-298insCCATTTCTGGTCCTTCATGGC...
ENST00000590333.5:c.2138-299_2138-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	ENSP00000468190.1:n.2138-299_2138-298insCCATTTCTGGTCCTTCATGGC...
NM_032430.1:c.2090-299_2090-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	NP_115806.1:n.2090-299_2090-298insCCATTTCTGGTCCTTCATGGCCTCTGT...
XM_005259327.2:c.1820-299_1820-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	XP_005259384.1:n.1820-299_1820-298insCCATTTCTGGTCCTTCATGGCCTC...
XM_011527395.1:c.1847-299_1847-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	XP_011525697.1:n.1847-299_1847-298insCCATTTCTGGTCCTTCATGGCCTC...
XR_430213.2:n.2073-299_2073-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT
XM_005259327.3:c.1820-299_1820-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	XP_005259384.1:n.1820-299_1820-298insCCATTTCTGGTCCTTCATGGCCTC...
XM_011527395.2:c.1562-299_1562-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	XP_011525697.2:n.1562-299_1562-298insCCATTTCTGGTCCTTCATGGCCTC...
XM_024451739.1:c.1865-299_1865-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	XP_024307507.1:n.1865-299_1865-298insCCATTTCTGGTCCTTCATGGCCTC...
XR_430213.4:n.2371-299_2371-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT
NM_032430.2:c.2090-299_2090-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT MANE Select	NP_115806.1:n.2090-299_2090-298insCCATTTCTGGTCCTTCATGGCCTCTGT...