Canonical Allele Identifier: CA508995430

Gene: BRSK1

Linked Data

• dbSNP Id: rs1307630095
• gnomAD v2: 19-55819405-TTG-T
• gnomAD v3: 19-55308037-TTG-T
• gnomAD v4: 19-55308037-TTG-T
• MyVariant Identifiers: chr19:g.55819406_55819407del (hg19) ; chr19:g.55308038_55308039del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308038_55308039del , CM000681.2:g.55308038_55308039del	GRCh38
NC_000019.9:g.55819406_55819407del , CM000681.1:g.55819406_55819407del	GRCh37
NC_000019.8:g.60511218_60511219del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-601_2090-600del MANE Select	ENSP00000310649.1:n.2090-601_2090-600del
ENST00000309383.5:c.2090-601_2090-600del	ENSP00000310649.1:n.2090-601_2090-600del
ENST00000326848.7:c.1175-601_1175-600del	ENSP00000320853.7:n.1175-601_1175-600del
ENST00000590333.5:c.2138-601_2138-600del	ENSP00000468190.1:n.2138-601_2138-600del
NM_032430.1:c.2090-601_2090-600del	NP_115806.1:n.2090-601_2090-600del
XM_005259327.2:c.1820-601_1820-600del	XP_005259384.1:n.1820-601_1820-600del
XM_011527395.1:c.1847-601_1847-600del	XP_011525697.1:n.1847-601_1847-600del
XR_430213.2:n.2073-601_2073-600del
XM_005259327.3:c.1820-601_1820-600del	XP_005259384.1:n.1820-601_1820-600del
XM_011527395.2:c.1562-601_1562-600del	XP_011525697.2:n.1562-601_1562-600del
XM_024451739.1:c.1865-601_1865-600del	XP_024307507.1:n.1865-601_1865-600del
XR_430213.4:n.2371-601_2371-600del
NM_032430.2:c.2090-601_2090-600del MANE Select	NP_115806.1:n.2090-601_2090-600del