Canonical Allele Identifier: CA2587278238

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308783-GCGGGGGGCGTGGGTGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308784_55308800del , CM000681.2:g.55308784_55308800del	GRCh38
NC_000019.9:g.55820152_55820168del , CM000681.1:g.55820152_55820168del	GRCh37
NC_000019.8:g.60511964_60511980del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+56_2179+72del MANE Select	ENSP00000310649.1:n.2179+56_2179+72del
ENST00000309383.5:c.2179+56_2179+72del	ENSP00000310649.1:n.2179+56_2179+72del
ENST00000326848.7:c.1264+56_1264+72del	ENSP00000320853.7:n.1264+56_1264+72del
ENST00000590333.5:c.2227+56_2227+72del	ENSP00000468190.1:n.2227+56_2227+72del
NM_032430.1:c.2179+56_2179+72del	NP_115806.1:n.2179+56_2179+72del
XM_005259327.2:c.1909+56_1909+72del	XP_005259384.1:n.1909+56_1909+72del
XM_011527395.1:c.1936+56_1936+72del	XP_011525697.1:n.1936+56_1936+72del
XR_430213.2:n.2162+56_2162+72del
XM_005259327.3:c.1909+56_1909+72del	XP_005259384.1:n.1909+56_1909+72del
XM_011527395.2:c.1651+56_1651+72del	XP_011525697.2:n.1651+56_1651+72del
XM_024451739.1:c.1954+56_1954+72del	XP_024307507.1:n.1954+56_1954+72del
XR_430213.4:n.2460+56_2460+72del
NM_032430.2:c.2179+56_2179+72del MANE Select	NP_115806.1:n.2179+56_2179+72del