Canonical Allele Identifier: CA2556586335
Gene: BRSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308354_55308355insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT , CM000681.2:g.55308354_55308355insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT GRCh38
NC_000019.9:g.55819722_55819723insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT , CM000681.1:g.55819722_55819723insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT GRCh37
NC_000019.8:g.60511534_60511535insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2090-285_2090-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT MANE Select ENSP00000310649.1:n.2090-285_2090-284insACATGGCCTCTGTACCTGGCT...
ENST00000309383.5:c.2090-285_2090-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT ENSP00000310649.1:n.2090-285_2090-284insACATGGCCTCTGTACCTGGCT...
ENST00000326848.7:c.1175-285_1175-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT ENSP00000320853.7:n.1175-285_1175-284insACATGGCCTCTGTACCTGGCT...
ENST00000590333.5:c.2138-285_2138-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT ENSP00000468190.1:n.2138-285_2138-284insACATGGCCTCTGTACCTGGCT...
NM_032430.1:c.2090-285_2090-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT NP_115806.1:n.2090-285_2090-284insACATGGCCTCTGTACCTGGCTCCAACT...
XM_005259327.2:c.1820-285_1820-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT XP_005259384.1:n.1820-285_1820-284insACATGGCCTCTGTACCTGGCTCCA...
XM_011527395.1:c.1847-285_1847-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT XP_011525697.1:n.1847-285_1847-284insACATGGCCTCTGTACCTGGCTCCA...
XR_430213.2:n.2073-285_2073-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT
XM_005259327.3:c.1820-285_1820-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT XP_005259384.1:n.1820-285_1820-284insACATGGCCTCTGTACCTGGCTCCA...
XM_011527395.2:c.1562-285_1562-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT XP_011525697.2:n.1562-285_1562-284insACATGGCCTCTGTACCTGGCTCCA...
XM_024451739.1:c.1865-285_1865-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT XP_024307507.1:n.1865-285_1865-284insACATGGCCTCTGTACCTGGCTCCA...
XR_430213.4:n.2371-285_2371-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT
NM_032430.2:c.2090-285_2090-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT MANE Select NP_115806.1:n.2090-285_2090-284insACATGGCCTCTGTACCTGGCTCCAACT...