Canonical Allele Identifier: CA2814886355
Gene: BRSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308320_55308321insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT , CM000681.2:g.55308320_55308321insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT GRCh38
NC_000019.9:g.55819688_55819689insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT , CM000681.1:g.55819688_55819689insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT GRCh37
NC_000019.8:g.60511500_60511501insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT NCBI36

Transcript Alleles

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