Canonical Allele Identifier: CA997262693

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088689615
• gnomAD v3: 19-55308043-CAG-C
• gnomAD v4: 19-55308043-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308046_55308047del , CM000681.2:g.55308046_55308047del	GRCh38
NC_000019.9:g.55819414_55819415del , CM000681.1:g.55819414_55819415del	GRCh37
NC_000019.8:g.60511226_60511227del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-593_2090-592del MANE Select	ENSP00000310649.1:n.2090-593_2090-592del
ENST00000309383.5:c.2090-593_2090-592del	ENSP00000310649.1:n.2090-593_2090-592del
ENST00000326848.7:c.1175-593_1175-592del	ENSP00000320853.7:n.1175-593_1175-592del
ENST00000590333.5:c.2138-593_2138-592del	ENSP00000468190.1:n.2138-593_2138-592del
NM_032430.1:c.2090-593_2090-592del	NP_115806.1:n.2090-593_2090-592del
XM_005259327.2:c.1820-593_1820-592del	XP_005259384.1:n.1820-593_1820-592del
XM_011527395.1:c.1847-593_1847-592del	XP_011525697.1:n.1847-593_1847-592del
XR_430213.2:n.2073-593_2073-592del
XM_005259327.3:c.1820-593_1820-592del	XP_005259384.1:n.1820-593_1820-592del
XM_011527395.2:c.1562-593_1562-592del	XP_011525697.2:n.1562-593_1562-592del
XM_024451739.1:c.1865-593_1865-592del	XP_024307507.1:n.1865-593_1865-592del
XR_430213.4:n.2371-593_2371-592del
NM_032430.2:c.2090-593_2090-592del MANE Select	NP_115806.1:n.2090-593_2090-592del