Canonical Allele Identifier: CA997262951

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308835-G-GGGT
• gnomAD v4: 19-55308835-G-GGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308837_55308838insTGG , CM000681.2:g.55308837_55308838insTGG	GRCh38
NC_000019.9:g.55820205_55820206insTGG , CM000681.1:g.55820205_55820206insTGG	GRCh37
NC_000019.8:g.60512017_60512018insTGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+109_2179+110insTGG MANE Select	ENSP00000310649.1:n.2179+109_2179+110insTGG
ENST00000309383.5:c.2179+109_2179+110insTGG	ENSP00000310649.1:n.2179+109_2179+110insTGG
ENST00000326848.7:c.1264+109_1264+110insTGG	ENSP00000320853.7:n.1264+109_1264+110insTGG
ENST00000590333.5:c.2227+109_2227+110insTGG	ENSP00000468190.1:n.2227+109_2227+110insTGG
NM_032430.1:c.2179+109_2179+110insTGG	NP_115806.1:n.2179+109_2179+110insTGG
XM_005259327.2:c.1909+109_1909+110insTGG	XP_005259384.1:n.1909+109_1909+110insTGG
XM_011527395.1:c.1936+109_1936+110insTGG	XP_011525697.1:n.1936+109_1936+110insTGG
XR_430213.2:n.2162+109_2162+110insTGG
XM_005259327.3:c.1909+109_1909+110insTGG	XP_005259384.1:n.1909+109_1909+110insTGG
XM_011527395.2:c.1651+109_1651+110insTGG	XP_011525697.2:n.1651+109_1651+110insTGG
XM_024451739.1:c.1954+109_1954+110insTGG	XP_024307507.1:n.1954+109_1954+110insTGG
XR_430213.4:n.2460+109_2460+110insTGG
NM_032430.2:c.2179+109_2179+110insTGG MANE Select	NP_115806.1:n.2179+109_2179+110insTGG