Canonical Allele Identifier: CA997262735

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308348_55308349insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT , CM000681.2:g.55308348_55308349insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT	GRCh38
NC_000019.9:g.55819716_55819717insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT , CM000681.1:g.55819716_55819717insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT	GRCh37
NC_000019.8:g.60511528_60511529insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-291_2090-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT MANE Select	ENSP00000310649.1:n.2090-291_2090-290insTGTCCTTCATGGCCTCTGTAC...
ENST00000309383.5:c.2090-291_2090-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT	ENSP00000310649.1:n.2090-291_2090-290insTGTCCTTCATGGCCTCTGTAC...
ENST00000326848.7:c.1175-291_1175-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT	ENSP00000320853.7:n.1175-291_1175-290insTGTCCTTCATGGCCTCTGTAC...
ENST00000590333.5:c.2138-291_2138-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT	ENSP00000468190.1:n.2138-291_2138-290insTGTCCTTCATGGCCTCTGTAC...
NM_032430.1:c.2090-291_2090-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT	NP_115806.1:n.2090-291_2090-290insTGTCCTTCATGGCCTCTGTACCTGGCT...
XM_005259327.2:c.1820-291_1820-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT	XP_005259384.1:n.1820-291_1820-290insTGTCCTTCATGGCCTCTGTACCTG...
XM_011527395.1:c.1847-291_1847-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT	XP_011525697.1:n.1847-291_1847-290insTGTCCTTCATGGCCTCTGTACCTG...
XR_430213.2:n.2073-291_2073-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT
XM_005259327.3:c.1820-291_1820-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT	XP_005259384.1:n.1820-291_1820-290insTGTCCTTCATGGCCTCTGTACCTG...
XM_011527395.2:c.1562-291_1562-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT	XP_011525697.2:n.1562-291_1562-290insTGTCCTTCATGGCCTCTGTACCTG...
XM_024451739.1:c.1865-291_1865-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT	XP_024307507.1:n.1865-291_1865-290insTGTCCTTCATGGCCTCTGTACCTG...
XR_430213.4:n.2371-291_2371-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT
NM_032430.2:c.2090-291_2090-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT MANE Select	NP_115806.1:n.2090-291_2090-290insTGTCCTTCATGGCCTCTGTACCTGGCT...