Canonical Allele Identifier: CA9672697
Gene: BRSK1 HGNC NCBI

Linked Data

dbSNP Id: rs751855911
ExAC: 19:55820105 T / TG
gnomAD v2: 19-55820105-T-TG
gnomAD v3: 19-55308737-T-TG
gnomAD v4: 19-55308737-T-TG
MyVariant Identifiers: chr19:g.55820110_55820137delinsGCCGTGGGTGGTGGGGGGCGTGGGTGGCG (hg19) chr19:g.55820105_55820106insG (hg19) chr19:g.55308737_55308738insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308741dup , CM000681.2:g.55308741dup GRCh38
NC_000019.9:g.55820109dup , CM000681.1:g.55820109dup GRCh37
NC_000019.8:g.60511921dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2179+13dup MANE Select ENSP00000310649.1:n.2179+13dup
ENST00000309383.5:c.2179+13dup ENSP00000310649.1:n.2179+13dup
ENST00000326848.7:c.1264+13dup ENSP00000320853.7:n.1264+13dup
ENST00000590333.5:c.2227+13dup ENSP00000468190.1:n.2227+13dup
NM_032430.1:c.2179+13dup NP_115806.1:n.2179+13dup
XM_005259327.2:c.1909+13dup XP_005259384.1:n.1909+13dup
XM_011527395.1:c.1936+13dup XP_011525697.1:n.1936+13dup
XR_430213.2:n.2162+13dup
XM_005259327.3:c.1909+13dup XP_005259384.1:n.1909+13dup
XM_011527395.2:c.1651+13dup XP_011525697.2:n.1651+13dup
XM_024451739.1:c.1954+13dup XP_024307507.1:n.1954+13dup
XR_430213.4:n.2460+13dup
NM_032430.2:c.2179+13dup MANE Select NP_115806.1:n.2179+13dup
Search 100 bp 5'
Search 100 bp 3'