Canonical Allele Identifier: CA997262815
Gene: BRSK1 HGNC NCBI

Linked Data

dbSNP Id: rs2088697438

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308366_55308367insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC , CM000681.2:g.55308366_55308367insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC GRCh38
NC_000019.9:g.55819734_55819735insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC , CM000681.1:g.55819734_55819735insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC GRCh37
NC_000019.8:g.60511546_60511547insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC MANE Select ENSP00000310649.1:n.2090-273_2090-272insTACCTGGCTCCAACTTATTTT...
ENST00000309383.5:c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC ENSP00000310649.1:n.2090-273_2090-272insTACCTGGCTCCAACTTATTTT...
ENST00000326848.7:c.1175-273_1175-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC ENSP00000320853.7:n.1175-273_1175-272insTACCTGGCTCCAACTTATTTT...
ENST00000590333.5:c.2138-273_2138-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC ENSP00000468190.1:n.2138-273_2138-272insTACCTGGCTCCAACTTATTTT...
NM_032430.1:c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC NP_115806.1:n.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTAC...
XM_005259327.2:c.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC XP_005259384.1:n.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCT...
XM_011527395.1:c.1847-273_1847-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC XP_011525697.1:n.1847-273_1847-272insTACCTGGCTCCAACTTATTTTTCT...
XR_430213.2:n.2073-273_2073-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC
XM_005259327.3:c.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC XP_005259384.1:n.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCT...
XM_011527395.2:c.1562-273_1562-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC XP_011525697.2:n.1562-273_1562-272insTACCTGGCTCCAACTTATTTTTCT...
XM_024451739.1:c.1865-273_1865-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC XP_024307507.1:n.1865-273_1865-272insTACCTGGCTCCAACTTATTTTTCT...
XR_430213.4:n.2371-273_2371-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC
NM_032430.2:c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC MANE Select NP_115806.1:n.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTAC...