Canonical Allele Identifier: CA633862525

Gene: BRSK1

Linked Data

• dbSNP Id: rs1192417349
• gnomAD v2: 19-55820074-G-GC
• gnomAD v4: 19-55308706-G-GC
• MyVariant Identifiers: chr19:g.55820074_55820075insC (hg19) ; chr19:g.55308706_55308707insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308709dup , CM000681.2:g.55308709dup	GRCh38
NC_000019.9:g.55820077dup , CM000681.1:g.55820077dup	GRCh37
NC_000019.8:g.60511889dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2160dup MANE Select	ENSP00000310649.1:p.Ser721LeufsTer?
ENST00000309383.5:c.2160dup	ENSP00000310649.1:p.Ser721LeufsTer?
ENST00000326848.7:c.1245dup	ENSP00000320853.7:p.Ser416LeufsTer?
ENST00000590333.5:c.2208dup	ENSP00000468190.1:p.Ser737LeufsTer?
NM_032430.1:c.2160dup	NP_115806.1:p.Ser721LeufsTer?
XM_005259327.2:c.1890dup	XP_005259384.1:p.Ser631LeufsTer?
XM_011527395.1:c.1917dup	XP_011525697.1:p.Ser640LeufsTer?
XR_430213.2:n.2143dup
XM_005259327.3:c.1890dup	XP_005259384.1:p.Ser631LeufsTer?
XM_011527395.2:c.1632dup	XP_011525697.2:p.Ser545LeufsTer?
XM_024451739.1:c.1935dup	XP_024307507.1:p.Ser646LeufsTer?
XR_430213.4:n.2441dup
NM_032430.2:c.2160dup MANE Select	NP_115806.1:p.Ser721LeufsTer?