Canonical Allele Identifier: CA633862624

Gene: BRSK1

Linked Data

• dbSNP Id: rs1440009262
• gnomAD v2: 19-55820166-GGCGGGGGGC-G
• gnomAD v3: 19-55308798-GGCGGGGGGC-G
• gnomAD v4: 19-55308798-GGCGGGGGGC-G
• MyVariant Identifiers: chr19:g.55820167_55820175del (hg19) ; chr19:g.55308799_55308807del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308800_55308808del , CM000681.2:g.55308800_55308808del	GRCh38
NC_000019.9:g.55820168_55820176del , CM000681.1:g.55820168_55820176del	GRCh37
NC_000019.8:g.60511980_60511988del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+72_2179+80del MANE Select	ENSP00000310649.1:n.2179+72_2179+80del
ENST00000309383.5:c.2179+72_2179+80del	ENSP00000310649.1:n.2179+72_2179+80del
ENST00000326848.7:c.1264+72_1264+80del	ENSP00000320853.7:n.1264+72_1264+80del
ENST00000590333.5:c.2227+72_2227+80del	ENSP00000468190.1:n.2227+72_2227+80del
NM_032430.1:c.2179+72_2179+80del	NP_115806.1:n.2179+72_2179+80del
XM_005259327.2:c.1909+72_1909+80del	XP_005259384.1:n.1909+72_1909+80del
XM_011527395.1:c.1936+72_1936+80del	XP_011525697.1:n.1936+72_1936+80del
XR_430213.2:n.2162+72_2162+80del
XM_005259327.3:c.1909+72_1909+80del	XP_005259384.1:n.1909+72_1909+80del
XM_011527395.2:c.1651+72_1651+80del	XP_011525697.2:n.1651+72_1651+80del
XM_024451739.1:c.1954+72_1954+80del	XP_024307507.1:n.1954+72_1954+80del
XR_430213.4:n.2460+72_2460+80del
NM_032430.2:c.2179+72_2179+80del MANE Select	NP_115806.1:n.2179+72_2179+80del