Canonical Allele Identifier: CA920140678

Gene: BRSK1

Linked Data

• dbSNP Id: rs1568990402

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308823_55308838del , CM000681.2:g.55308823_55308838del	GRCh38
NC_000019.9:g.55820191_55820206del , CM000681.1:g.55820191_55820206del	GRCh37
NC_000019.8:g.60512003_60512018del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+95_2179+110del MANE Select	ENSP00000310649.1:n.2179+95_2179+110del
ENST00000309383.5:c.2179+95_2179+110del	ENSP00000310649.1:n.2179+95_2179+110del
ENST00000326848.7:c.1264+95_1264+110del	ENSP00000320853.7:n.1264+95_1264+110del
ENST00000590333.5:c.2227+95_2227+110del	ENSP00000468190.1:n.2227+95_2227+110del
NM_032430.1:c.2179+95_2179+110del	NP_115806.1:n.2179+95_2179+110del
XM_005259327.2:c.1909+95_1909+110del	XP_005259384.1:n.1909+95_1909+110del
XM_011527395.1:c.1936+95_1936+110del	XP_011525697.1:n.1936+95_1936+110del
XR_430213.2:n.2162+95_2162+110del
XM_005259327.3:c.1909+95_1909+110del	XP_005259384.1:n.1909+95_1909+110del
XM_011527395.2:c.1651+95_1651+110del	XP_011525697.2:n.1651+95_1651+110del
XM_024451739.1:c.1954+95_1954+110del	XP_024307507.1:n.1954+95_1954+110del
XR_430213.4:n.2460+95_2460+110del
NM_032430.2:c.2179+95_2179+110del MANE Select	NP_115806.1:n.2179+95_2179+110del