Canonical Allele Identifier: CA997262752

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308317_55308318insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA , CM000681.2:g.55308317_55308318insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA	GRCh38
NC_000019.9:g.55819685_55819686insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA , CM000681.1:g.55819685_55819686insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA	GRCh37
NC_000019.8:g.60511497_60511498insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-322_2090-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA MANE Select	ENSP00000310649.1:n.2090-322_2090-321insTCTGGCTCCAACTTATTTTTC...
ENST00000309383.5:c.2090-322_2090-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA	ENSP00000310649.1:n.2090-322_2090-321insTCTGGCTCCAACTTATTTTTC...
ENST00000326848.7:c.1175-322_1175-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA	ENSP00000320853.7:n.1175-322_1175-321insTCTGGCTCCAACTTATTTTTC...
ENST00000590333.5:c.2138-322_2138-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA	ENSP00000468190.1:n.2138-322_2138-321insTCTGGCTCCAACTTATTTTTC...
NM_032430.1:c.2090-322_2090-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA	NP_115806.1:n.2090-322_2090-321insTCTGGCTCCAACTTATTTTTCTTACAT...
XM_005259327.2:c.1820-322_1820-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA	XP_005259384.1:n.1820-322_1820-321insTCTGGCTCCAACTTATTTTTCTTA...
XM_011527395.1:c.1847-322_1847-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA	XP_011525697.1:n.1847-322_1847-321insTCTGGCTCCAACTTATTTTTCTTA...
XR_430213.2:n.2073-322_2073-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA
XM_005259327.3:c.1820-322_1820-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA	XP_005259384.1:n.1820-322_1820-321insTCTGGCTCCAACTTATTTTTCTTA...
XM_011527395.2:c.1562-322_1562-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA	XP_011525697.2:n.1562-322_1562-321insTCTGGCTCCAACTTATTTTTCTTA...
XM_024451739.1:c.1865-322_1865-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA	XP_024307507.1:n.1865-322_1865-321insTCTGGCTCCAACTTATTTTTCTTA...
XR_430213.4:n.2371-322_2371-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA
NM_032430.2:c.2090-322_2090-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA MANE Select	NP_115806.1:n.2090-322_2090-321insTCTGGCTCCAACTTATTTTTCTTACAT...