Canonical Allele Identifier: CA9672710

Gene: BRSK1

Linked Data

• ExAC: 19:55820120 TGGGGGGCGTGGGTGGC / T
• MyVariant Identifiers: chr19:g.55820126_55820168delinsCCGTGGGTGGCGGGGGGCGTGGGTGGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308758_55308773del , CM000681.2:g.55308758_55308773del	GRCh38
NC_000019.9:g.55820126_55820141del , CM000681.1:g.55820126_55820141del	GRCh37
NC_000019.8:g.60511938_60511953del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+30_2179+45del MANE Select	ENSP00000310649.1:n.2179+30_2179+45del
ENST00000309383.5:c.2179+30_2179+45del	ENSP00000310649.1:n.2179+30_2179+45del
ENST00000326848.7:c.1264+30_1264+45del	ENSP00000320853.7:n.1264+30_1264+45del
ENST00000590333.5:c.2227+30_2227+45del	ENSP00000468190.1:n.2227+30_2227+45del
NM_032430.1:c.2179+30_2179+45del	NP_115806.1:n.2179+30_2179+45del
XM_005259327.2:c.1909+30_1909+45del	XP_005259384.1:n.1909+30_1909+45del
XM_011527395.1:c.1936+30_1936+45del	XP_011525697.1:n.1936+30_1936+45del
XR_430213.2:n.2162+30_2162+45del
XM_005259327.3:c.1909+30_1909+45del	XP_005259384.1:n.1909+30_1909+45del
XM_011527395.2:c.1651+30_1651+45del	XP_011525697.2:n.1651+30_1651+45del
XM_024451739.1:c.1954+30_1954+45del	XP_024307507.1:n.1954+30_1954+45del
XR_430213.4:n.2460+30_2460+45del
NM_032430.2:c.2179+30_2179+45del MANE Select	NP_115806.1:n.2179+30_2179+45del