Canonical Allele Identifier: CA997262873
Gene: BRSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308737_55308847del , CM000681.2:g.55308737_55308847del GRCh38
NC_000019.9:g.55820105_55820215del , CM000681.1:g.55820105_55820215del GRCh37
NC_000019.8:g.60511917_60512027del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2179+9_2179+119del
ENST00000309383.5:c.2179+9_2179+119del
ENST00000326848.7:c.1264+9_1264+119del
ENST00000590333.5:c.2227+9_2227+119del
NM_032430.1:c.2179+9_2179+119del
XM_005259327.2:c.1909+9_1909+119del
XM_011527395.1:c.1936+9_1936+119del
XR_430213.2:n.2162+9_2162+119del
XM_005259327.3:c.1909+9_1909+119del
XM_011527395.2:c.1651+9_1651+119del
XM_024451739.1:c.1954+9_1954+119del
XR_430213.4:n.2460+9_2460+119del
NM_032430.2:c.2179+9_2179+119del