Canonical Allele Identifier: CA997262776

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308337_55308338insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT , CM000681.2:g.55308337_55308338insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT	GRCh38
NC_000019.9:g.55819705_55819706insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT , CM000681.1:g.55819705_55819706insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT	GRCh37
NC_000019.8:g.60511517_60511518insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-302_2090-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT MANE Select	ENSP00000310649.1:n.2090-302_2090-301insATTACAGTTCTGGTCCTTCAT...
ENST00000309383.5:c.2090-302_2090-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT	ENSP00000310649.1:n.2090-302_2090-301insATTACAGTTCTGGTCCTTCAT...
ENST00000326848.7:c.1175-302_1175-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT	ENSP00000320853.7:n.1175-302_1175-301insATTACAGTTCTGGTCCTTCAT...
ENST00000590333.5:c.2138-302_2138-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT	ENSP00000468190.1:n.2138-302_2138-301insATTACAGTTCTGGTCCTTCAT...
NM_032430.1:c.2090-302_2090-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT	NP_115806.1:n.2090-302_2090-301insATTACAGTTCTGGTCCTTCATGGCCTC...
XM_005259327.2:c.1820-302_1820-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT	XP_005259384.1:n.1820-302_1820-301insATTACAGTTCTGGTCCTTCATGGC...
XM_011527395.1:c.1847-302_1847-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT	XP_011525697.1:n.1847-302_1847-301insATTACAGTTCTGGTCCTTCATGGC...
XR_430213.2:n.2073-302_2073-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT
XM_005259327.3:c.1820-302_1820-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT	XP_005259384.1:n.1820-302_1820-301insATTACAGTTCTGGTCCTTCATGGC...
XM_011527395.2:c.1562-302_1562-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT	XP_011525697.2:n.1562-302_1562-301insATTACAGTTCTGGTCCTTCATGGC...
XM_024451739.1:c.1865-302_1865-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT	XP_024307507.1:n.1865-302_1865-301insATTACAGTTCTGGTCCTTCATGGC...
XR_430213.4:n.2371-302_2371-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT
NM_032430.2:c.2090-302_2090-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT MANE Select	NP_115806.1:n.2090-302_2090-301insATTACAGTTCTGGTCCTTCATGGCCTC...