Canonical Allele Identifier: CA633862565

Gene: BRSK1

Linked Data

• dbSNP Id: rs1389397738
• gnomAD v2: 19-55820125-GGC-G
• MyVariant Identifiers: chr19:g.55820126_55820127del (hg19) ; chr19:g.55308758_55308759del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308759_55308760del , CM000681.2:g.55308759_55308760del	GRCh38
NC_000019.9:g.55820127_55820128del , CM000681.1:g.55820127_55820128del	GRCh37
NC_000019.8:g.60511939_60511940del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+31_2179+32del MANE Select	ENSP00000310649.1:n.2179+31_2179+32del
ENST00000309383.5:c.2179+31_2179+32del	ENSP00000310649.1:n.2179+31_2179+32del
ENST00000326848.7:c.1264+31_1264+32del	ENSP00000320853.7:n.1264+31_1264+32del
ENST00000590333.5:c.2227+31_2227+32del	ENSP00000468190.1:n.2227+31_2227+32del
NM_032430.1:c.2179+31_2179+32del	NP_115806.1:n.2179+31_2179+32del
XM_005259327.2:c.1909+31_1909+32del	XP_005259384.1:n.1909+31_1909+32del
XM_011527395.1:c.1936+31_1936+32del	XP_011525697.1:n.1936+31_1936+32del
XR_430213.2:n.2162+31_2162+32del
XM_005259327.3:c.1909+31_1909+32del	XP_005259384.1:n.1909+31_1909+32del
XM_011527395.2:c.1651+31_1651+32del	XP_011525697.2:n.1651+31_1651+32del
XM_024451739.1:c.1954+31_1954+32del	XP_024307507.1:n.1954+31_1954+32del
XR_430213.4:n.2460+31_2460+32del
NM_032430.2:c.2179+31_2179+32del MANE Select	NP_115806.1:n.2179+31_2179+32del