Canonical Allele Identifier: CA997262924

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308803-GGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCGGT-G
• gnomAD v4: 19-55308803-GGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308807_55308844del , CM000681.2:g.55308807_55308844del	GRCh38
NC_000019.9:g.55820175_55820212del , CM000681.1:g.55820175_55820212del	GRCh37
NC_000019.8:g.60511987_60512024del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+79_2179+116del MANE Select	ENSP00000310649.1:n.2179+79_2179+116del
ENST00000309383.5:c.2179+79_2179+116del	ENSP00000310649.1:n.2179+79_2179+116del
ENST00000326848.7:c.1264+79_1264+116del	ENSP00000320853.7:n.1264+79_1264+116del
ENST00000590333.5:c.2227+79_2227+116del	ENSP00000468190.1:n.2227+79_2227+116del
NM_032430.1:c.2179+79_2179+116del	NP_115806.1:n.2179+79_2179+116del
XM_005259327.2:c.1909+79_1909+116del	XP_005259384.1:n.1909+79_1909+116del
XM_011527395.1:c.1936+79_1936+116del	XP_011525697.1:n.1936+79_1936+116del
XR_430213.2:n.2162+79_2162+116del
XM_005259327.3:c.1909+79_1909+116del	XP_005259384.1:n.1909+79_1909+116del
XM_011527395.2:c.1651+79_1651+116del	XP_011525697.2:n.1651+79_1651+116del
XM_024451739.1:c.1954+79_1954+116del	XP_024307507.1:n.1954+79_1954+116del
XR_430213.4:n.2460+79_2460+116del
NM_032430.2:c.2179+79_2179+116del MANE Select	NP_115806.1:n.2179+79_2179+116del