Canonical Allele Identifier: CA997262754

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308346_55308347insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT , CM000681.2:g.55308346_55308347insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT	GRCh38
NC_000019.9:g.55819714_55819715insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT , CM000681.1:g.55819714_55819715insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT	GRCh37
NC_000019.8:g.60511526_60511527insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-293_2090-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT MANE Select	ENSP00000310649.1:n.2090-293_2090-292insATGGTCCTTCATGGCCTCTGT...
ENST00000309383.5:c.2090-293_2090-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT	ENSP00000310649.1:n.2090-293_2090-292insATGGTCCTTCATGGCCTCTGT...
ENST00000326848.7:c.1175-293_1175-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT	ENSP00000320853.7:n.1175-293_1175-292insATGGTCCTTCATGGCCTCTGT...
ENST00000590333.5:c.2138-293_2138-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT	ENSP00000468190.1:n.2138-293_2138-292insATGGTCCTTCATGGCCTCTGT...
NM_032430.1:c.2090-293_2090-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT	NP_115806.1:n.2090-293_2090-292insATGGTCCTTCATGGCCTCTGTACCTGG...
XM_005259327.2:c.1820-293_1820-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT	XP_005259384.1:n.1820-293_1820-292insATGGTCCTTCATGGCCTCTGTACC...
XM_011527395.1:c.1847-293_1847-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT	XP_011525697.1:n.1847-293_1847-292insATGGTCCTTCATGGCCTCTGTACC...
XR_430213.2:n.2073-293_2073-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT
XM_005259327.3:c.1820-293_1820-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT	XP_005259384.1:n.1820-293_1820-292insATGGTCCTTCATGGCCTCTGTACC...
XM_011527395.2:c.1562-293_1562-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT	XP_011525697.2:n.1562-293_1562-292insATGGTCCTTCATGGCCTCTGTACC...
XM_024451739.1:c.1865-293_1865-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT	XP_024307507.1:n.1865-293_1865-292insATGGTCCTTCATGGCCTCTGTACC...
XR_430213.4:n.2371-293_2371-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT
NM_032430.2:c.2090-293_2090-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT MANE Select	NP_115806.1:n.2090-293_2090-292insATGGTCCTTCATGGCCTCTGTACCTGG...