Canonical Allele Identifier: CA997262908

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308786-GGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGT-G
• gnomAD v4: 19-55308786-GGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308790_55308828del , CM000681.2:g.55308790_55308828del	GRCh38
NC_000019.9:g.55820158_55820196del , CM000681.1:g.55820158_55820196del	GRCh37
NC_000019.8:g.60511970_60512008del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+62_2179+100del MANE Select	ENSP00000310649.1:n.2179+62_2179+100del
ENST00000309383.5:c.2179+62_2179+100del	ENSP00000310649.1:n.2179+62_2179+100del
ENST00000326848.7:c.1264+62_1264+100del	ENSP00000320853.7:n.1264+62_1264+100del
ENST00000590333.5:c.2227+62_2227+100del	ENSP00000468190.1:n.2227+62_2227+100del
NM_032430.1:c.2179+62_2179+100del	NP_115806.1:n.2179+62_2179+100del
XM_005259327.2:c.1909+62_1909+100del	XP_005259384.1:n.1909+62_1909+100del
XM_011527395.1:c.1936+62_1936+100del	XP_011525697.1:n.1936+62_1936+100del
XR_430213.2:n.2162+62_2162+100del
XM_005259327.3:c.1909+62_1909+100del	XP_005259384.1:n.1909+62_1909+100del
XM_011527395.2:c.1651+62_1651+100del	XP_011525697.2:n.1651+62_1651+100del
XM_024451739.1:c.1954+62_1954+100del	XP_024307507.1:n.1954+62_1954+100del
XR_430213.4:n.2460+62_2460+100del
NM_032430.2:c.2179+62_2179+100del MANE Select	NP_115806.1:n.2179+62_2179+100del