Canonical Allele Identifier: CA997262875

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088706947
• gnomAD v3: 19-55308728-GGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC-G
• gnomAD v4: 19-55308728-GGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308737_55308815del , CM000681.2:g.55308737_55308815del	GRCh38
NC_000019.9:g.55820105_55820183del , CM000681.1:g.55820105_55820183del	GRCh37
NC_000019.8:g.60511917_60511995del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+9_2179+87del MANE Select	ENSP00000310649.1:n.2179+9_2179+87del
ENST00000309383.5:c.2179+9_2179+87del	ENSP00000310649.1:n.2179+9_2179+87del
ENST00000326848.7:c.1264+9_1264+87del	ENSP00000320853.7:n.1264+9_1264+87del
ENST00000590333.5:c.2227+9_2227+87del	ENSP00000468190.1:n.2227+9_2227+87del
NM_032430.1:c.2179+9_2179+87del	NP_115806.1:n.2179+9_2179+87del
XM_005259327.2:c.1909+9_1909+87del	XP_005259384.1:n.1909+9_1909+87del
XM_011527395.1:c.1936+9_1936+87del	XP_011525697.1:n.1936+9_1936+87del
XR_430213.2:n.2162+9_2162+87del
XM_005259327.3:c.1909+9_1909+87del	XP_005259384.1:n.1909+9_1909+87del
XM_011527395.2:c.1651+9_1651+87del	XP_011525697.2:n.1651+9_1651+87del
XM_024451739.1:c.1954+9_1954+87del	XP_024307507.1:n.1954+9_1954+87del
XR_430213.4:n.2460+9_2460+87del
NM_032430.2:c.2179+9_2179+87del MANE Select	NP_115806.1:n.2179+9_2179+87del