Canonical Allele Identifier: CA2814886371

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308751_55308752insGGGGGGGCG , CM000681.2:g.55308751_55308752insGGGGGGGCG	GRCh38
NC_000019.9:g.55820119_55820120insGGGGGGGCG , CM000681.1:g.55820119_55820120insGGGGGGGCG	GRCh37
NC_000019.8:g.60511931_60511932insGGGGGGGCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+23_2179+24insGGGGGGGCG MANE Select	ENSP00000310649.1:n.2179+23_2179+24insGGGGGGGCG
ENST00000309383.5:c.2179+23_2179+24insGGGGGGGCG	ENSP00000310649.1:n.2179+23_2179+24insGGGGGGGCG
ENST00000326848.7:c.1264+23_1264+24insGGGGGGGCG	ENSP00000320853.7:n.1264+23_1264+24insGGGGGGGCG
ENST00000590333.5:c.2227+23_2227+24insGGGGGGGCG	ENSP00000468190.1:n.2227+23_2227+24insGGGGGGGCG
NM_032430.1:c.2179+23_2179+24insGGGGGGGCG	NP_115806.1:n.2179+23_2179+24insGGGGGGGCG
XM_005259327.2:c.1909+23_1909+24insGGGGGGGCG	XP_005259384.1:n.1909+23_1909+24insGGGGGGGCG
XM_011527395.1:c.1936+23_1936+24insGGGGGGGCG	XP_011525697.1:n.1936+23_1936+24insGGGGGGGCG
XR_430213.2:n.2162+23_2162+24insGGGGGGGCG
XM_005259327.3:c.1909+23_1909+24insGGGGGGGCG	XP_005259384.1:n.1909+23_1909+24insGGGGGGGCG
XM_011527395.2:c.1651+23_1651+24insGGGGGGGCG	XP_011525697.2:n.1651+23_1651+24insGGGGGGGCG
XM_024451739.1:c.1954+23_1954+24insGGGGGGGCG	XP_024307507.1:n.1954+23_1954+24insGGGGGGGCG
XR_430213.4:n.2460+23_2460+24insGGGGGGGCG
NM_032430.2:c.2179+23_2179+24insGGGGGGGCG MANE Select	NP_115806.1:n.2179+23_2179+24insGGGGGGGCG