Canonical Allele Identifier: CA997262688

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308038-TGA-T
• gnomAD v4: 19-55308038-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308041_55308042del , CM000681.2:g.55308041_55308042del	GRCh38
NC_000019.9:g.55819409_55819410del , CM000681.1:g.55819409_55819410del	GRCh37
NC_000019.8:g.60511221_60511222del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-598_2090-597del MANE Select	ENSP00000310649.1:n.2090-598_2090-597del
ENST00000309383.5:c.2090-598_2090-597del	ENSP00000310649.1:n.2090-598_2090-597del
ENST00000326848.7:c.1175-598_1175-597del	ENSP00000320853.7:n.1175-598_1175-597del
ENST00000590333.5:c.2138-598_2138-597del	ENSP00000468190.1:n.2138-598_2138-597del
NM_032430.1:c.2090-598_2090-597del	NP_115806.1:n.2090-598_2090-597del
XM_005259327.2:c.1820-598_1820-597del	XP_005259384.1:n.1820-598_1820-597del
XM_011527395.1:c.1847-598_1847-597del	XP_011525697.1:n.1847-598_1847-597del
XR_430213.2:n.2073-598_2073-597del
XM_005259327.3:c.1820-598_1820-597del	XP_005259384.1:n.1820-598_1820-597del
XM_011527395.2:c.1562-598_1562-597del	XP_011525697.2:n.1562-598_1562-597del
XM_024451739.1:c.1865-598_1865-597del	XP_024307507.1:n.1865-598_1865-597del
XR_430213.4:n.2371-598_2371-597del
NM_032430.2:c.2090-598_2090-597del MANE Select	NP_115806.1:n.2090-598_2090-597del