Canonical Allele Identifier: CA997262880

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308745-TGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTG-T
• gnomAD v4: 19-55308745-TGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308748_55308812del , CM000681.2:g.55308748_55308812del	GRCh38
NC_000019.9:g.55820116_55820180del , CM000681.1:g.55820116_55820180del	GRCh37
NC_000019.8:g.60511928_60511992del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+20_2179+84del MANE Select	ENSP00000310649.1:n.2179+20_2179+84del
ENST00000309383.5:c.2179+20_2179+84del	ENSP00000310649.1:n.2179+20_2179+84del
ENST00000326848.7:c.1264+20_1264+84del	ENSP00000320853.7:n.1264+20_1264+84del
ENST00000590333.5:c.2227+20_2227+84del	ENSP00000468190.1:n.2227+20_2227+84del
NM_032430.1:c.2179+20_2179+84del	NP_115806.1:n.2179+20_2179+84del
XM_005259327.2:c.1909+20_1909+84del	XP_005259384.1:n.1909+20_1909+84del
XM_011527395.1:c.1936+20_1936+84del	XP_011525697.1:n.1936+20_1936+84del
XR_430213.2:n.2162+20_2162+84del
XM_005259327.3:c.1909+20_1909+84del	XP_005259384.1:n.1909+20_1909+84del
XM_011527395.2:c.1651+20_1651+84del	XP_011525697.2:n.1651+20_1651+84del
XM_024451739.1:c.1954+20_1954+84del	XP_024307507.1:n.1954+20_1954+84del
XR_430213.4:n.2460+20_2460+84del
NM_032430.2:c.2179+20_2179+84del MANE Select	NP_115806.1:n.2179+20_2179+84del