Canonical Allele Identifier: CA997262739

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308340_55308341insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT , CM000681.2:g.55308340_55308341insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	GRCh38
NC_000019.9:g.55819708_55819709insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT , CM000681.1:g.55819708_55819709insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	GRCh37
NC_000019.8:g.60511520_60511521insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT	NCBI36

Transcript Alleles

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