Canonical Allele Identifier: CA2814886376

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308785_55308792del , CM000681.2:g.55308785_55308792del	GRCh38
NC_000019.9:g.55820153_55820160del , CM000681.1:g.55820153_55820160del	GRCh37
NC_000019.8:g.60511965_60511972del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+57_2179+64del MANE Select	ENSP00000310649.1:n.2179+57_2179+64del
ENST00000309383.5:c.2179+57_2179+64del	ENSP00000310649.1:n.2179+57_2179+64del
ENST00000326848.7:c.1264+57_1264+64del	ENSP00000320853.7:n.1264+57_1264+64del
ENST00000590333.5:c.2227+57_2227+64del	ENSP00000468190.1:n.2227+57_2227+64del
NM_032430.1:c.2179+57_2179+64del	NP_115806.1:n.2179+57_2179+64del
XM_005259327.2:c.1909+57_1909+64del	XP_005259384.1:n.1909+57_1909+64del
XM_011527395.1:c.1936+57_1936+64del	XP_011525697.1:n.1936+57_1936+64del
XR_430213.2:n.2162+57_2162+64del
XM_005259327.3:c.1909+57_1909+64del	XP_005259384.1:n.1909+57_1909+64del
XM_011527395.2:c.1651+57_1651+64del	XP_011525697.2:n.1651+57_1651+64del
XM_024451739.1:c.1954+57_1954+64del	XP_024307507.1:n.1954+57_1954+64del
XR_430213.4:n.2460+57_2460+64del
NM_032430.2:c.2179+57_2179+64del MANE Select	NP_115806.1:n.2179+57_2179+64del