Canonical Allele Identifier: CA633862618

Gene: BRSK1

Linked Data

• gnomAD v2: 19-55820158-G-GCGTGGGTGGCGGGGGC
• gnomAD v3: 19-55308790-G-GCGTGGGTGGCGGGGGC
• gnomAD v4: 19-55308790-G-GCGTGGGTGGCGGGGGC
• MyVariant Identifiers: chr19:g.55820158_55820159insCGTGGGTGGCGGGGGC (hg19) ; chr19:g.55308790_55308791insCGTGGGTGGCGGGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308805_55308806insCCGTGGGTGGCGGGGG , CM000681.2:g.55308805_55308806insCCGTGGGTGGCGGGGG	GRCh38
NC_000019.9:g.55820173_55820174insCCGTGGGTGGCGGGGG , CM000681.1:g.55820173_55820174insCCGTGGGTGGCGGGGG	GRCh37
NC_000019.8:g.60511985_60511986insCCGTGGGTGGCGGGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+77_2179+78insCCGTGGGTGGCGGGGG MANE Select	ENSP00000310649.1:n.2179+77_2179+78insCCGTGGGTGGCGGGGG
ENST00000309383.5:c.2179+77_2179+78insCCGTGGGTGGCGGGGG	ENSP00000310649.1:n.2179+77_2179+78insCCGTGGGTGGCGGGGG
ENST00000326848.7:c.1264+77_1264+78insCCGTGGGTGGCGGGGG	ENSP00000320853.7:n.1264+77_1264+78insCCGTGGGTGGCGGGGG
ENST00000590333.5:c.2227+77_2227+78insCCGTGGGTGGCGGGGG	ENSP00000468190.1:n.2227+77_2227+78insCCGTGGGTGGCGGGGG
NM_032430.1:c.2179+77_2179+78insCCGTGGGTGGCGGGGG	NP_115806.1:n.2179+77_2179+78insCCGTGGGTGGCGGGGG
XM_005259327.2:c.1909+77_1909+78insCCGTGGGTGGCGGGGG	XP_005259384.1:n.1909+77_1909+78insCCGTGGGTGGCGGGGG
XM_011527395.1:c.1936+77_1936+78insCCGTGGGTGGCGGGGG	XP_011525697.1:n.1936+77_1936+78insCCGTGGGTGGCGGGGG
XR_430213.2:n.2162+77_2162+78insCCGTGGGTGGCGGGGG
XM_005259327.3:c.1909+77_1909+78insCCGTGGGTGGCGGGGG	XP_005259384.1:n.1909+77_1909+78insCCGTGGGTGGCGGGGG
XM_011527395.2:c.1651+77_1651+78insCCGTGGGTGGCGGGGG	XP_011525697.2:n.1651+77_1651+78insCCGTGGGTGGCGGGGG
XM_024451739.1:c.1954+77_1954+78insCCGTGGGTGGCGGGGG	XP_024307507.1:n.1954+77_1954+78insCCGTGGGTGGCGGGGG
XR_430213.4:n.2460+77_2460+78insCCGTGGGTGGCGGGGG
NM_032430.2:c.2179+77_2179+78insCCGTGGGTGGCGGGGG MANE Select	NP_115806.1:n.2179+77_2179+78insCCGTGGGTGGCGGGGG