Canonical Allele Identifier: CA997262753

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308345_55308346insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT , CM000681.2:g.55308345_55308346insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT	GRCh38
NC_000019.9:g.55819713_55819714insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT , CM000681.1:g.55819713_55819714insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT	GRCh37
NC_000019.8:g.60511525_60511526insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-294_2090-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT MANE Select	ENSP00000310649.1:n.2090-294_2090-293insCCTGGTCCTTCATGGCCTCTG...
ENST00000309383.5:c.2090-294_2090-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT	ENSP00000310649.1:n.2090-294_2090-293insCCTGGTCCTTCATGGCCTCTG...
ENST00000326848.7:c.1175-294_1175-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT	ENSP00000320853.7:n.1175-294_1175-293insCCTGGTCCTTCATGGCCTCTG...
ENST00000590333.5:c.2138-294_2138-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT	ENSP00000468190.1:n.2138-294_2138-293insCCTGGTCCTTCATGGCCTCTG...
NM_032430.1:c.2090-294_2090-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT	NP_115806.1:n.2090-294_2090-293insCCTGGTCCTTCATGGCCTCTGTACCTG...
XM_005259327.2:c.1820-294_1820-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT	XP_005259384.1:n.1820-294_1820-293insCCTGGTCCTTCATGGCCTCTGTAC...
XM_011527395.1:c.1847-294_1847-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT	XP_011525697.1:n.1847-294_1847-293insCCTGGTCCTTCATGGCCTCTGTAC...
XR_430213.2:n.2073-294_2073-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT
XM_005259327.3:c.1820-294_1820-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT	XP_005259384.1:n.1820-294_1820-293insCCTGGTCCTTCATGGCCTCTGTAC...
XM_011527395.2:c.1562-294_1562-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT	XP_011525697.2:n.1562-294_1562-293insCCTGGTCCTTCATGGCCTCTGTAC...
XM_024451739.1:c.1865-294_1865-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT	XP_024307507.1:n.1865-294_1865-293insCCTGGTCCTTCATGGCCTCTGTAC...
XR_430213.4:n.2371-294_2371-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT
NM_032430.2:c.2090-294_2090-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT MANE Select	NP_115806.1:n.2090-294_2090-293insCCTGGTCCTTCATGGCCTCTGTACCTG...