Canonical Allele Identifier: CA9672681

Gene: BRSK1

Linked Data

• dbSNP Id: rs776672241
• ExAC: 19:55820004 T / TA
• gnomAD v2: 19-55820004-T-TA
• gnomAD v3: 19-55308636-T-TA
• gnomAD v4: 19-55308636-T-TA
• MyVariant Identifiers: chr19:g.55820004_55820005insA (hg19) ; chr19:g.55308636_55308637insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308637dup , CM000681.2:g.55308637dup	GRCh38
NC_000019.9:g.55820005dup , CM000681.1:g.55820005dup	GRCh37
NC_000019.8:g.60511817dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-2dup MANE Select	ENSP00000310649.1:n.2090-2dup
ENST00000309383.5:c.2090-2dup	ENSP00000310649.1:n.2090-2dup
ENST00000326848.7:c.1175-2dup	ENSP00000320853.7:n.1175-2dup
ENST00000590333.5:c.2138-2dup	ENSP00000468190.1:n.2138-2dup
NM_032430.1:c.2090-2dup	NP_115806.1:n.2090-2dup
XM_005259327.2:c.1820-2dup	XP_005259384.1:n.1820-2dup
XM_011527395.1:c.1847-2dup	XP_011525697.1:n.1847-2dup
XR_430213.2:n.2073-2dup
XM_005259327.3:c.1820-2dup	XP_005259384.1:n.1820-2dup
XM_011527395.2:c.1562-2dup	XP_011525697.2:n.1562-2dup
XM_024451739.1:c.1865-2dup	XP_024307507.1:n.1865-2dup
XR_430213.4:n.2371-2dup
NM_032430.2:c.2090-2dup MANE Select	NP_115806.1:n.2090-2dup