Canonical Allele Identifier: CA9672693

Gene: BRSK1

Linked Data

• dbSNP Id: rs769453037
• ExAC: 19:55820096 GGTGGGTGGTGGGGCC / G
• gnomAD v2: 19-55820096-GGTGGGTGGTGGGGCC-G
• gnomAD v3: 19-55308728-GGTGGGTGGTGGGGCC-G
• gnomAD v4: 19-55308728-GGTGGGTGGTGGGGCC-G
• MyVariant Identifiers: chr19:g.55820097_55820111del (hg19) ; chr19:g.55820110_55820127delinsGGC (hg19) ; chr19:g.55308729_55308743del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308742_55308756del , CM000681.2:g.55308742_55308756del	GRCh38
NC_000019.9:g.55820110_55820124del , CM000681.1:g.55820110_55820124del	GRCh37
NC_000019.8:g.60511922_60511936del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+14_2179+28del MANE Select	ENSP00000310649.1:n.2179+14_2179+28del
ENST00000309383.5:c.2179+14_2179+28del	ENSP00000310649.1:n.2179+14_2179+28del
ENST00000326848.7:c.1264+14_1264+28del	ENSP00000320853.7:n.1264+14_1264+28del
ENST00000590333.5:c.2227+14_2227+28del	ENSP00000468190.1:n.2227+14_2227+28del
NM_032430.1:c.2179+14_2179+28del	NP_115806.1:n.2179+14_2179+28del
XM_005259327.2:c.1909+14_1909+28del	XP_005259384.1:n.1909+14_1909+28del
XM_011527395.1:c.1936+14_1936+28del	XP_011525697.1:n.1936+14_1936+28del
XR_430213.2:n.2162+14_2162+28del
XM_005259327.3:c.1909+14_1909+28del	XP_005259384.1:n.1909+14_1909+28del
XM_011527395.2:c.1651+14_1651+28del	XP_011525697.2:n.1651+14_1651+28del
XM_024451739.1:c.1954+14_1954+28del	XP_024307507.1:n.1954+14_1954+28del
XR_430213.4:n.2460+14_2460+28del
NM_032430.2:c.2179+14_2179+28del MANE Select	NP_115806.1:n.2179+14_2179+28del