Canonical Allele Identifier: CA633862642

Gene: BRSK1

Linked Data

• dbSNP Id: rs1477433437
• gnomAD v2: 19-55820182-GGCGGGGGGC-G
• gnomAD v3: 19-55308814-GGCGGGGGGC-G
• gnomAD v4: 19-55308814-GGCGGGGGGC-G
• MyVariant Identifiers: chr19:g.55820183_55820191del (hg19) ; chr19:g.55308815_55308823del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308816_55308824del , CM000681.2:g.55308816_55308824del	GRCh38
NC_000019.9:g.55820184_55820192del , CM000681.1:g.55820184_55820192del	GRCh37
NC_000019.8:g.60511996_60512004del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+88_2179+96del MANE Select	ENSP00000310649.1:n.2179+88_2179+96del
ENST00000309383.5:c.2179+88_2179+96del	ENSP00000310649.1:n.2179+88_2179+96del
ENST00000326848.7:c.1264+88_1264+96del	ENSP00000320853.7:n.1264+88_1264+96del
ENST00000590333.5:c.2227+88_2227+96del	ENSP00000468190.1:n.2227+88_2227+96del
NM_032430.1:c.2179+88_2179+96del	NP_115806.1:n.2179+88_2179+96del
XM_005259327.2:c.1909+88_1909+96del	XP_005259384.1:n.1909+88_1909+96del
XM_011527395.1:c.1936+88_1936+96del	XP_011525697.1:n.1936+88_1936+96del
XR_430213.2:n.2162+88_2162+96del
XM_005259327.3:c.1909+88_1909+96del	XP_005259384.1:n.1909+88_1909+96del
XM_011527395.2:c.1651+88_1651+96del	XP_011525697.2:n.1651+88_1651+96del
XM_024451739.1:c.1954+88_1954+96del	XP_024307507.1:n.1954+88_1954+96del
XR_430213.4:n.2460+88_2460+96del
NM_032430.2:c.2179+88_2179+96del MANE Select	NP_115806.1:n.2179+88_2179+96del