Canonical Allele Identifier: CA997262934

Gene: BRSK1

Linked Data

• dbSNP Id: rs2123001472
• gnomAD v3: 19-55308810-GGGTGGCGGGGGGCGT-G
• gnomAD v4: 19-55308810-GGGTGGCGGGGGGCGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308813_55308827del , CM000681.2:g.55308813_55308827del	GRCh38
NC_000019.9:g.55820181_55820195del , CM000681.1:g.55820181_55820195del	GRCh37
NC_000019.8:g.60511993_60512007del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+85_2179+99del MANE Select	ENSP00000310649.1:n.2179+85_2179+99del
ENST00000309383.5:c.2179+85_2179+99del	ENSP00000310649.1:n.2179+85_2179+99del
ENST00000326848.7:c.1264+85_1264+99del	ENSP00000320853.7:n.1264+85_1264+99del
ENST00000590333.5:c.2227+85_2227+99del	ENSP00000468190.1:n.2227+85_2227+99del
NM_032430.1:c.2179+85_2179+99del	NP_115806.1:n.2179+85_2179+99del
XM_005259327.2:c.1909+85_1909+99del	XP_005259384.1:n.1909+85_1909+99del
XM_011527395.1:c.1936+85_1936+99del	XP_011525697.1:n.1936+85_1936+99del
XR_430213.2:n.2162+85_2162+99del
XM_005259327.3:c.1909+85_1909+99del	XP_005259384.1:n.1909+85_1909+99del
XM_011527395.2:c.1651+85_1651+99del	XP_011525697.2:n.1651+85_1651+99del
XM_024451739.1:c.1954+85_1954+99del	XP_024307507.1:n.1954+85_1954+99del
XR_430213.4:n.2460+85_2460+99del
NM_032430.2:c.2179+85_2179+99del MANE Select	NP_115806.1:n.2179+85_2179+99del