Canonical Allele Identifier: CA997262874

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088706881
• gnomAD v3: 19-55308728-GGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCC-G
• gnomAD v4: 19-55308728-GGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308737_55308783del , CM000681.2:g.55308737_55308783del	GRCh38
NC_000019.9:g.55820105_55820151del , CM000681.1:g.55820105_55820151del	GRCh37
NC_000019.8:g.60511917_60511963del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+9_2179+55del MANE Select	ENSP00000310649.1:n.2179+9_2179+55del
ENST00000309383.5:c.2179+9_2179+55del	ENSP00000310649.1:n.2179+9_2179+55del
ENST00000326848.7:c.1264+9_1264+55del	ENSP00000320853.7:n.1264+9_1264+55del
ENST00000590333.5:c.2227+9_2227+55del	ENSP00000468190.1:n.2227+9_2227+55del
NM_032430.1:c.2179+9_2179+55del	NP_115806.1:n.2179+9_2179+55del
XM_005259327.2:c.1909+9_1909+55del	XP_005259384.1:n.1909+9_1909+55del
XM_011527395.1:c.1936+9_1936+55del	XP_011525697.1:n.1936+9_1936+55del
XR_430213.2:n.2162+9_2162+55del
XM_005259327.3:c.1909+9_1909+55del	XP_005259384.1:n.1909+9_1909+55del
XM_011527395.2:c.1651+9_1651+55del	XP_011525697.2:n.1651+9_1651+55del
XM_024451739.1:c.1954+9_1954+55del	XP_024307507.1:n.1954+9_1954+55del
XR_430213.4:n.2460+9_2460+55del
NM_032430.2:c.2179+9_2179+55del MANE Select	NP_115806.1:n.2179+9_2179+55del