Canonical Allele Identifier: CA997262674

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088686988
• gnomAD v3: 19-55307987-ATTTC-A
• gnomAD v4: 19-55307987-ATTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55307991_55307994del , CM000681.2:g.55307991_55307994del	GRCh38
NC_000019.9:g.55819359_55819362del , CM000681.1:g.55819359_55819362del	GRCh37
NC_000019.8:g.60511171_60511174del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-648_2090-645del MANE Select	ENSP00000310649.1:n.2090-648_2090-645del
ENST00000309383.5:c.2090-648_2090-645del	ENSP00000310649.1:n.2090-648_2090-645del
ENST00000326848.7:c.1175-648_1175-645del	ENSP00000320853.7:n.1175-648_1175-645del
ENST00000590333.5:c.2138-648_2138-645del	ENSP00000468190.1:n.2138-648_2138-645del
NM_032430.1:c.2090-648_2090-645del	NP_115806.1:n.2090-648_2090-645del
XM_005259327.2:c.1820-648_1820-645del	XP_005259384.1:n.1820-648_1820-645del
XM_011527395.1:c.1847-648_1847-645del	XP_011525697.1:n.1847-648_1847-645del
XR_430213.2:n.2073-648_2073-645del
XM_005259327.3:c.1820-648_1820-645del	XP_005259384.1:n.1820-648_1820-645del
XM_011527395.2:c.1562-648_1562-645del	XP_011525697.2:n.1562-648_1562-645del
XM_024451739.1:c.1865-648_1865-645del	XP_024307507.1:n.1865-648_1865-645del
XR_430213.4:n.2371-648_2371-645del
NM_032430.2:c.2090-648_2090-645del MANE Select	NP_115806.1:n.2090-648_2090-645del