Canonical Allele Identifier: CA310134586

Gene: BRSK1

Linked Data

• dbSNP Id: rs1018673005
• gnomAD v2: 19-55819372-TTTG-T
• gnomAD v3: 19-55308004-TTTG-T
• gnomAD v4: 19-55308004-TTTG-T
• MyVariant Identifiers: chr19:g.55819373_55819375del (hg19) ; chr19:g.55308005_55308007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308019_55308021del , CM000681.2:g.55308019_55308021del	GRCh38
NC_000019.9:g.55819387_55819389del , CM000681.1:g.55819387_55819389del	GRCh37
NC_000019.8:g.60511199_60511201del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-620_2090-618del MANE Select	ENSP00000310649.1:n.2090-620_2090-618del
ENST00000309383.5:c.2090-620_2090-618del	ENSP00000310649.1:n.2090-620_2090-618del
ENST00000326848.7:c.1175-620_1175-618del	ENSP00000320853.7:n.1175-620_1175-618del
ENST00000590333.5:c.2138-620_2138-618del	ENSP00000468190.1:n.2138-620_2138-618del
NM_032430.1:c.2090-620_2090-618del	NP_115806.1:n.2090-620_2090-618del
XM_005259327.2:c.1820-620_1820-618del	XP_005259384.1:n.1820-620_1820-618del
XM_011527395.1:c.1847-620_1847-618del	XP_011525697.1:n.1847-620_1847-618del
XR_430213.2:n.2073-620_2073-618del
XM_005259327.3:c.1820-620_1820-618del	XP_005259384.1:n.1820-620_1820-618del
XM_011527395.2:c.1562-620_1562-618del	XP_011525697.2:n.1562-620_1562-618del
XM_024451739.1:c.1865-620_1865-618del	XP_024307507.1:n.1865-620_1865-618del
XR_430213.4:n.2371-620_2371-618del
NM_032430.2:c.2090-620_2090-618del MANE Select	NP_115806.1:n.2090-620_2090-618del