Canonical Allele Identifier: CA2587278205

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308755-GGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308757_55308760del , CM000681.2:g.55308757_55308760del	GRCh38
NC_000019.9:g.55820125_55820128del , CM000681.1:g.55820125_55820128del	GRCh37
NC_000019.8:g.60511937_60511940del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+29_2179+32del MANE Select	ENSP00000310649.1:n.2179+29_2179+32del
ENST00000309383.5:c.2179+29_2179+32del	ENSP00000310649.1:n.2179+29_2179+32del
ENST00000326848.7:c.1264+29_1264+32del	ENSP00000320853.7:n.1264+29_1264+32del
ENST00000590333.5:c.2227+29_2227+32del	ENSP00000468190.1:n.2227+29_2227+32del
NM_032430.1:c.2179+29_2179+32del	NP_115806.1:n.2179+29_2179+32del
XM_005259327.2:c.1909+29_1909+32del	XP_005259384.1:n.1909+29_1909+32del
XM_011527395.1:c.1936+29_1936+32del	XP_011525697.1:n.1936+29_1936+32del
XR_430213.2:n.2162+29_2162+32del
XM_005259327.3:c.1909+29_1909+32del	XP_005259384.1:n.1909+29_1909+32del
XM_011527395.2:c.1651+29_1651+32del	XP_011525697.2:n.1651+29_1651+32del
XM_024451739.1:c.1954+29_1954+32del	XP_024307507.1:n.1954+29_1954+32del
XR_430213.4:n.2460+29_2460+32del
NM_032430.2:c.2179+29_2179+32del MANE Select	NP_115806.1:n.2179+29_2179+32del