Canonical Allele Identifier: CA310134607

Gene: BRSK1

Linked Data

• dbSNP Id: rs563131841
• gnomAD v2: 19-55819392-GTT-G
• gnomAD v3: 19-55308024-GTT-G
• gnomAD v4: 19-55308024-GTT-G
• MyVariant Identifiers: chr19:g.55819394_55819395del (hg19) ; chr19:g.55819393_55819394del (hg19) ; chr19:g.55308026_55308027del (hg38) ; chr19:g.55308025_55308026del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308037_55308038del , CM000681.2:g.55308037_55308038del	GRCh38
NC_000019.9:g.55819405_55819406del , CM000681.1:g.55819405_55819406del	GRCh37
NC_000019.8:g.60511217_60511218del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-602_2090-601del MANE Select	ENSP00000310649.1:n.2090-602_2090-601del
ENST00000309383.5:c.2090-602_2090-601del	ENSP00000310649.1:n.2090-602_2090-601del
ENST00000326848.7:c.1175-602_1175-601del	ENSP00000320853.7:n.1175-602_1175-601del
ENST00000590333.5:c.2138-602_2138-601del	ENSP00000468190.1:n.2138-602_2138-601del
NM_032430.1:c.2090-602_2090-601del	NP_115806.1:n.2090-602_2090-601del
XM_005259327.2:c.1820-602_1820-601del	XP_005259384.1:n.1820-602_1820-601del
XM_011527395.1:c.1847-602_1847-601del	XP_011525697.1:n.1847-602_1847-601del
XR_430213.2:n.2073-602_2073-601del
XM_005259327.3:c.1820-602_1820-601del	XP_005259384.1:n.1820-602_1820-601del
XM_011527395.2:c.1562-602_1562-601del	XP_011525697.2:n.1562-602_1562-601del
XM_024451739.1:c.1865-602_1865-601del	XP_024307507.1:n.1865-602_1865-601del
XR_430213.4:n.2371-602_2371-601del
NM_032430.2:c.2090-602_2090-601del MANE Select	NP_115806.1:n.2090-602_2090-601del