Canonical Allele Identifier: CA997262950

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308838_55308843del , CM000681.2:g.55308838_55308843del	GRCh38
NC_000019.9:g.55820206_55820211del , CM000681.1:g.55820206_55820211del	GRCh37
NC_000019.8:g.60512018_60512023del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+110_2179+115del MANE Select	ENSP00000310649.1:n.2179+110_2179+115del
ENST00000309383.5:c.2179+110_2179+115del	ENSP00000310649.1:n.2179+110_2179+115del
ENST00000326848.7:c.1264+110_1264+115del	ENSP00000320853.7:n.1264+110_1264+115del
ENST00000590333.5:c.2227+110_2227+115del	ENSP00000468190.1:n.2227+110_2227+115del
NM_032430.1:c.2179+110_2179+115del	NP_115806.1:n.2179+110_2179+115del
XM_005259327.2:c.1909+110_1909+115del	XP_005259384.1:n.1909+110_1909+115del
XM_011527395.1:c.1936+110_1936+115del	XP_011525697.1:n.1936+110_1936+115del
XR_430213.2:n.2162+110_2162+115del
XM_005259327.3:c.1909+110_1909+115del	XP_005259384.1:n.1909+110_1909+115del
XM_011527395.2:c.1651+110_1651+115del	XP_011525697.2:n.1651+110_1651+115del
XM_024451739.1:c.1954+110_1954+115del	XP_024307507.1:n.1954+110_1954+115del
XR_430213.4:n.2460+110_2460+115del
NM_032430.2:c.2179+110_2179+115del MANE Select	NP_115806.1:n.2179+110_2179+115del