Canonical Allele Identifier: CA2587278186

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308749-TGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCGGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308755_55308847del , CM000681.2:g.55308755_55308847del	GRCh38
NC_000019.9:g.55820123_55820215del , CM000681.1:g.55820123_55820215del	GRCh37
NC_000019.8:g.60511935_60512027del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+27_2179+119del MANE Select	ENSP00000310649.1:n.2179+27_2179+119del
ENST00000309383.5:c.2179+27_2179+119del	ENSP00000310649.1:n.2179+27_2179+119del
ENST00000326848.7:c.1264+27_1264+119del	ENSP00000320853.7:n.1264+27_1264+119del
ENST00000590333.5:c.2227+27_2227+119del	ENSP00000468190.1:n.2227+27_2227+119del
NM_032430.1:c.2179+27_2179+119del	NP_115806.1:n.2179+27_2179+119del
XM_005259327.2:c.1909+27_1909+119del	XP_005259384.1:n.1909+27_1909+119del
XM_011527395.1:c.1936+27_1936+119del	XP_011525697.1:n.1936+27_1936+119del
XR_430213.2:n.2162+27_2162+119del
XM_005259327.3:c.1909+27_1909+119del	XP_005259384.1:n.1909+27_1909+119del
XM_011527395.2:c.1651+27_1651+119del	XP_011525697.2:n.1651+27_1651+119del
XM_024451739.1:c.1954+27_1954+119del	XP_024307507.1:n.1954+27_1954+119del
XR_430213.4:n.2460+27_2460+119del
NM_032430.2:c.2179+27_2179+119del MANE Select	NP_115806.1:n.2179+27_2179+119del