Canonical Allele Identifier: CA997262955

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308839-G-GGGGGGC
• gnomAD v4: 19-55308839-G-GGGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308840_55308841insGGGGCG , CM000681.2:g.55308840_55308841insGGGGCG	GRCh38
NC_000019.9:g.55820208_55820209insGGGGCG , CM000681.1:g.55820208_55820209insGGGGCG	GRCh37
NC_000019.8:g.60512020_60512021insGGGGCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+112_2179+113insGGGGCG MANE Select	ENSP00000310649.1:n.2179+112_2179+113insGGGGCG
ENST00000309383.5:c.2179+112_2179+113insGGGGCG	ENSP00000310649.1:n.2179+112_2179+113insGGGGCG
ENST00000326848.7:c.1264+112_1264+113insGGGGCG	ENSP00000320853.7:n.1264+112_1264+113insGGGGCG
ENST00000590333.5:c.2227+112_2227+113insGGGGCG	ENSP00000468190.1:n.2227+112_2227+113insGGGGCG
NM_032430.1:c.2179+112_2179+113insGGGGCG	NP_115806.1:n.2179+112_2179+113insGGGGCG
XM_005259327.2:c.1909+112_1909+113insGGGGCG	XP_005259384.1:n.1909+112_1909+113insGGGGCG
XM_011527395.1:c.1936+112_1936+113insGGGGCG	XP_011525697.1:n.1936+112_1936+113insGGGGCG
XR_430213.2:n.2162+112_2162+113insGGGGCG
XM_005259327.3:c.1909+112_1909+113insGGGGCG	XP_005259384.1:n.1909+112_1909+113insGGGGCG
XM_011527395.2:c.1651+112_1651+113insGGGGCG	XP_011525697.2:n.1651+112_1651+113insGGGGCG
XM_024451739.1:c.1954+112_1954+113insGGGGCG	XP_024307507.1:n.1954+112_1954+113insGGGGCG
XR_430213.4:n.2460+112_2460+113insGGGGCG
NM_032430.2:c.2179+112_2179+113insGGGGCG MANE Select	NP_115806.1:n.2179+112_2179+113insGGGGCG