Canonical Allele Identifier: CA997262809

Gene: BRSK1

Linked Data

• dbSNP Id: rs1246381269
• gnomAD v3: 19-55308365-C-CCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT
• gnomAD v4: 19-55308365-C-CCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308365_55308366insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT , CM000681.2:g.55308365_55308366insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT	GRCh38
NC_000019.9:g.55819733_55819734insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT , CM000681.1:g.55819733_55819734insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT	GRCh37
NC_000019.8:g.60511545_60511546insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-274_2090-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT MANE Select	ENSP00000310649.1:n.2090-274_2090-273insCTGGCTCCAACTTATTTTTCT...
ENST00000309383.5:c.2090-274_2090-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT	ENSP00000310649.1:n.2090-274_2090-273insCTGGCTCCAACTTATTTTTCT...
ENST00000326848.7:c.1175-274_1175-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT	ENSP00000320853.7:n.1175-274_1175-273insCTGGCTCCAACTTATTTTTCT...
ENST00000590333.5:c.2138-274_2138-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT	ENSP00000468190.1:n.2138-274_2138-273insCTGGCTCCAACTTATTTTTCT...
NM_032430.1:c.2090-274_2090-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT	NP_115806.1:n.2090-274_2090-273insCTGGCTCCAACTTATTTTTCTTACATT...
XM_005259327.2:c.1820-274_1820-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT	XP_005259384.1:n.1820-274_1820-273insCTGGCTCCAACTTATTTTTCTTAC...
XM_011527395.1:c.1847-274_1847-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT	XP_011525697.1:n.1847-274_1847-273insCTGGCTCCAACTTATTTTTCTTAC...
XR_430213.2:n.2073-274_2073-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT
XM_005259327.3:c.1820-274_1820-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT	XP_005259384.1:n.1820-274_1820-273insCTGGCTCCAACTTATTTTTCTTAC...
XM_011527395.2:c.1562-274_1562-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT	XP_011525697.2:n.1562-274_1562-273insCTGGCTCCAACTTATTTTTCTTAC...
XM_024451739.1:c.1865-274_1865-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT	XP_024307507.1:n.1865-274_1865-273insCTGGCTCCAACTTATTTTTCTTAC...
XR_430213.4:n.2371-274_2371-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT
NM_032430.2:c.2090-274_2090-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT MANE Select	NP_115806.1:n.2090-274_2090-273insCTGGCTCCAACTTATTTTTCTTACATT...