Canonical Allele Identifier: CA997262772

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308343_55308344insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA , CM000681.2:g.55308343_55308344insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA	GRCh38
NC_000019.9:g.55819711_55819712insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA , CM000681.1:g.55819711_55819712insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA	GRCh37
NC_000019.8:g.60511523_60511524insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-296_2090-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA MANE Select	ENSP00000310649.1:n.2090-296_2090-295insCTTCTGGTCCTTCATGGCCTC...
ENST00000309383.5:c.2090-296_2090-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA	ENSP00000310649.1:n.2090-296_2090-295insCTTCTGGTCCTTCATGGCCTC...
ENST00000326848.7:c.1175-296_1175-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA	ENSP00000320853.7:n.1175-296_1175-295insCTTCTGGTCCTTCATGGCCTC...
ENST00000590333.5:c.2138-296_2138-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA	ENSP00000468190.1:n.2138-296_2138-295insCTTCTGGTCCTTCATGGCCTC...
NM_032430.1:c.2090-296_2090-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA	NP_115806.1:n.2090-296_2090-295insCTTCTGGTCCTTCATGGCCTCTGTACC...
XM_005259327.2:c.1820-296_1820-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA	XP_005259384.1:n.1820-296_1820-295insCTTCTGGTCCTTCATGGCCTCTGT...
XM_011527395.1:c.1847-296_1847-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA	XP_011525697.1:n.1847-296_1847-295insCTTCTGGTCCTTCATGGCCTCTGT...
XR_430213.2:n.2073-296_2073-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA
XM_005259327.3:c.1820-296_1820-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA	XP_005259384.1:n.1820-296_1820-295insCTTCTGGTCCTTCATGGCCTCTGT...
XM_011527395.2:c.1562-296_1562-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA	XP_011525697.2:n.1562-296_1562-295insCTTCTGGTCCTTCATGGCCTCTGT...
XM_024451739.1:c.1865-296_1865-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA	XP_024307507.1:n.1865-296_1865-295insCTTCTGGTCCTTCATGGCCTCTGT...
XR_430213.4:n.2371-296_2371-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA
NM_032430.2:c.2090-296_2090-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA MANE Select	NP_115806.1:n.2090-296_2090-295insCTTCTGGTCCTTCATGGCCTCTGTACC...