Canonical Allele Identifier: CA997262946

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308831-G-GT
• gnomAD v4: 19-55308831-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308831_55308832insT , CM000681.2:g.55308831_55308832insT	GRCh38
NC_000019.9:g.55820199_55820200insT , CM000681.1:g.55820199_55820200insT	GRCh37
NC_000019.8:g.60512011_60512012insT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+103_2179+104insT MANE Select	ENSP00000310649.1:n.2179+103_2179+104insT
ENST00000309383.5:c.2179+103_2179+104insT	ENSP00000310649.1:n.2179+103_2179+104insT
ENST00000326848.7:c.1264+103_1264+104insT	ENSP00000320853.7:n.1264+103_1264+104insT
ENST00000590333.5:c.2227+103_2227+104insT	ENSP00000468190.1:n.2227+103_2227+104insT
NM_032430.1:c.2179+103_2179+104insT	NP_115806.1:n.2179+103_2179+104insT
XM_005259327.2:c.1909+103_1909+104insT	XP_005259384.1:n.1909+103_1909+104insT
XM_011527395.1:c.1936+103_1936+104insT	XP_011525697.1:n.1936+103_1936+104insT
XR_430213.2:n.2162+103_2162+104insT
XM_005259327.3:c.1909+103_1909+104insT	XP_005259384.1:n.1909+103_1909+104insT
XM_011527395.2:c.1651+103_1651+104insT	XP_011525697.2:n.1651+103_1651+104insT
XM_024451739.1:c.1954+103_1954+104insT	XP_024307507.1:n.1954+103_1954+104insT
XR_430213.4:n.2460+103_2460+104insT
NM_032430.2:c.2179+103_2179+104insT MANE Select	NP_115806.1:n.2179+103_2179+104insT