Canonical Allele Identifier: CA883744139

Gene: BRSK1

Linked Data

• dbSNP Id: rs1491567078
• gnomAD v3: 19-55308023-GGT-G
• gnomAD v4: 19-55308023-GGT-G
• MyVariant Identifiers: chr19:g.55819392_55819393del (hg19) ; chr19:g.55308024_55308025del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308024_55308025del , CM000681.2:g.55308024_55308025del	GRCh38
NC_000019.9:g.55819392_55819393del , CM000681.1:g.55819392_55819393del	GRCh37
NC_000019.8:g.60511204_60511205del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-615_2090-614del MANE Select	ENSP00000310649.1:n.2090-615_2090-614del
ENST00000309383.5:c.2090-615_2090-614del	ENSP00000310649.1:n.2090-615_2090-614del
ENST00000326848.7:c.1175-615_1175-614del	ENSP00000320853.7:n.1175-615_1175-614del
ENST00000590333.5:c.2138-615_2138-614del	ENSP00000468190.1:n.2138-615_2138-614del
NM_032430.1:c.2090-615_2090-614del	NP_115806.1:n.2090-615_2090-614del
XM_005259327.2:c.1820-615_1820-614del	XP_005259384.1:n.1820-615_1820-614del
XM_011527395.1:c.1847-615_1847-614del	XP_011525697.1:n.1847-615_1847-614del
XR_430213.2:n.2073-615_2073-614del
XM_005259327.3:c.1820-615_1820-614del	XP_005259384.1:n.1820-615_1820-614del
XM_011527395.2:c.1562-615_1562-614del	XP_011525697.2:n.1562-615_1562-614del
XM_024451739.1:c.1865-615_1865-614del	XP_024307507.1:n.1865-615_1865-614del
XR_430213.4:n.2371-615_2371-614del
NM_032430.2:c.2090-615_2090-614del MANE Select	NP_115806.1:n.2090-615_2090-614del