Canonical Allele Identifier: CA633862335
Gene: BRSK1 HGNC NCBI

Linked Data

dbSNP Id: rs563131841
gnomAD v2: 19-55819392-G-GT
gnomAD v3: 19-55308024-G-GT
gnomAD v4: 19-55308024-G-GT
COSMIC: COSN18756779
MyVariant Identifiers: chr19:g.55819395_55819396insT (hg19) chr19:g.55819392_55819393insT (hg19) chr19:g.55308027_55308028insT (hg38) chr19:g.55308024_55308025insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308038dup , CM000681.2:g.55308038dup GRCh38
NC_000019.9:g.55819406dup , CM000681.1:g.55819406dup GRCh37
NC_000019.8:g.60511218dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2090-601dup MANE Select ENSP00000310649.1:n.2090-601dup
ENST00000309383.5:c.2090-601dup ENSP00000310649.1:n.2090-601dup
ENST00000326848.7:c.1175-601dup ENSP00000320853.7:n.1175-601dup
ENST00000590333.5:c.2138-601dup ENSP00000468190.1:n.2138-601dup
NM_032430.1:c.2090-601dup NP_115806.1:n.2090-601dup
XM_005259327.2:c.1820-601dup XP_005259384.1:n.1820-601dup
XM_011527395.1:c.1847-601dup XP_011525697.1:n.1847-601dup
XR_430213.2:n.2073-601dup
XM_005259327.3:c.1820-601dup XP_005259384.1:n.1820-601dup
XM_011527395.2:c.1562-601dup XP_011525697.2:n.1562-601dup
XM_024451739.1:c.1865-601dup XP_024307507.1:n.1865-601dup
XR_430213.4:n.2371-601dup
NM_032430.2:c.2090-601dup MANE Select NP_115806.1:n.2090-601dup
Search 100 bp 5'
Search 100 bp 3'