Canonical Allele Identifier: CA920140675
Gene: BRSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1555893657

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308793_55308811del , CM000681.2:g.55308793_55308811del GRCh38
NC_000019.9:g.55820161_55820179del , CM000681.1:g.55820161_55820179del GRCh37
NC_000019.8:g.60511973_60511991del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2179+65_2179+83del MANE Select ENSP00000310649.1:n.2179+65_2179+83del
ENST00000309383.5:c.2179+65_2179+83del ENSP00000310649.1:n.2179+65_2179+83del
ENST00000326848.7:c.1264+65_1264+83del ENSP00000320853.7:n.1264+65_1264+83del
ENST00000590333.5:c.2227+65_2227+83del ENSP00000468190.1:n.2227+65_2227+83del
NM_032430.1:c.2179+65_2179+83del NP_115806.1:n.2179+65_2179+83del
XM_005259327.2:c.1909+65_1909+83del XP_005259384.1:n.1909+65_1909+83del
XM_011527395.1:c.1936+65_1936+83del XP_011525697.1:n.1936+65_1936+83del
XR_430213.2:n.2162+65_2162+83del
XM_005259327.3:c.1909+65_1909+83del XP_005259384.1:n.1909+65_1909+83del
XM_011527395.2:c.1651+65_1651+83del XP_011525697.2:n.1651+65_1651+83del
XM_024451739.1:c.1954+65_1954+83del XP_024307507.1:n.1954+65_1954+83del
XR_430213.4:n.2460+65_2460+83del
NM_032430.2:c.2179+65_2179+83del MANE Select NP_115806.1:n.2179+65_2179+83del