Canonical Allele Identifier: CA2587278226

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308768-CGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308770_55308840del , CM000681.2:g.55308770_55308840del	GRCh38
NC_000019.9:g.55820138_55820208del , CM000681.1:g.55820138_55820208del	GRCh37
NC_000019.8:g.60511950_60512020del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+42_2179+112del MANE Select	ENSP00000310649.1:n.2179+42_2179+112del
ENST00000309383.5:c.2179+42_2179+112del	ENSP00000310649.1:n.2179+42_2179+112del
ENST00000326848.7:c.1264+42_1264+112del	ENSP00000320853.7:n.1264+42_1264+112del
ENST00000590333.5:c.2227+42_2227+112del	ENSP00000468190.1:n.2227+42_2227+112del
NM_032430.1:c.2179+42_2179+112del	NP_115806.1:n.2179+42_2179+112del
XM_005259327.2:c.1909+42_1909+112del	XP_005259384.1:n.1909+42_1909+112del
XM_011527395.1:c.1936+42_1936+112del	XP_011525697.1:n.1936+42_1936+112del
XR_430213.2:n.2162+42_2162+112del
XM_005259327.3:c.1909+42_1909+112del	XP_005259384.1:n.1909+42_1909+112del
XM_011527395.2:c.1651+42_1651+112del	XP_011525697.2:n.1651+42_1651+112del
XM_024451739.1:c.1954+42_1954+112del	XP_024307507.1:n.1954+42_1954+112del
XR_430213.4:n.2460+42_2460+112del
NM_032430.2:c.2179+42_2179+112del MANE Select	NP_115806.1:n.2179+42_2179+112del