Canonical Allele Identifier: CA2582275966

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308320_55308321insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT , CM000681.2:g.55308320_55308321insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT	GRCh38
NC_000019.9:g.55819688_55819689insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT , CM000681.1:g.55819688_55819689insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT	GRCh37
NC_000019.8:g.60511500_60511501insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-319_2090-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT MANE Select	ENSP00000310649.1:n.2090-319_2090-318insCGCTCCAACTTATTTTTCTTA...
ENST00000309383.5:c.2090-319_2090-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT	ENSP00000310649.1:n.2090-319_2090-318insCGCTCCAACTTATTTTTCTTA...
ENST00000326848.7:c.1175-319_1175-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT	ENSP00000320853.7:n.1175-319_1175-318insCGCTCCAACTTATTTTTCTTA...
ENST00000590333.5:c.2138-319_2138-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT	ENSP00000468190.1:n.2138-319_2138-318insCGCTCCAACTTATTTTTCTTA...
NM_032430.1:c.2090-319_2090-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT	NP_115806.1:n.2090-319_2090-318insCGCTCCAACTTATTTTTCTTACATTTC...
XM_005259327.2:c.1820-319_1820-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT	XP_005259384.1:n.1820-319_1820-318insCGCTCCAACTTATTTTTCTTACAT...
XM_011527395.1:c.1847-319_1847-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT	XP_011525697.1:n.1847-319_1847-318insCGCTCCAACTTATTTTTCTTACAT...
XR_430213.2:n.2073-319_2073-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT
XM_005259327.3:c.1820-319_1820-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT	XP_005259384.1:n.1820-319_1820-318insCGCTCCAACTTATTTTTCTTACAT...
XM_011527395.2:c.1562-319_1562-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT	XP_011525697.2:n.1562-319_1562-318insCGCTCCAACTTATTTTTCTTACAT...
XM_024451739.1:c.1865-319_1865-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT	XP_024307507.1:n.1865-319_1865-318insCGCTCCAACTTATTTTTCTTACAT...
XR_430213.4:n.2371-319_2371-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT
NM_032430.2:c.2090-319_2090-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT MANE Select	NP_115806.1:n.2090-319_2090-318insCGCTCCAACTTATTTTTCTTACATTTC...