Canonical Allele Identifier: CA2343355883

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308742_55308822delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG , CM000681.2:g.55308742_55308822delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	GRCh38
NC_000019.9:g.55820110_55820190delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG , CM000681.1:g.55820110_55820190delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	GRCh37
NC_000019.8:g.60511922_60512002delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+14_2179+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG MANE Select	ENSP00000310649.1:n.2179+14_2179+94delinsCCGTGGGTGGTGGGGGGCGT...
ENST00000309383.5:c.2179+14_2179+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	ENSP00000310649.1:n.2179+14_2179+94delinsCCGTGGGTGGTGGGGGGCGT...
ENST00000326848.7:c.1264+14_1264+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	ENSP00000320853.7:n.1264+14_1264+94delinsCCGTGGGTGGTGGGGGGCGT...
ENST00000590333.5:c.2227+14_2227+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	ENSP00000468190.1:n.2227+14_2227+94delinsCCGTGGGTGGTGGGGGGCGT...
NM_032430.1:c.2179+14_2179+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	NP_115806.1:n.2179+14_2179+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGG...
XM_005259327.2:c.1909+14_1909+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	XP_005259384.1:n.1909+14_1909+94delinsCCGTGGGTGGTGGGGGGCGTGGG...
XM_011527395.1:c.1936+14_1936+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	XP_011525697.1:n.1936+14_1936+94delinsCCGTGGGTGGTGGGGGGCGTGGG...
XR_430213.2:n.2162+14_2162+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG
XM_005259327.3:c.1909+14_1909+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	XP_005259384.1:n.1909+14_1909+94delinsCCGTGGGTGGTGGGGGGCGTGGG...
XM_011527395.2:c.1651+14_1651+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	XP_011525697.2:n.1651+14_1651+94delinsCCGTGGGTGGTGGGGGGCGTGGG...
XM_024451739.1:c.1954+14_1954+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	XP_024307507.1:n.1954+14_1954+94delinsCCGTGGGTGGTGGGGGGCGTGGG...
XR_430213.4:n.2460+14_2460+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG
NM_032430.2:c.2179+14_2179+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG MANE Select	NP_115806.1:n.2179+14_2179+94delinsCCGTGGGTGGTGGGGGGCGTGGGTGG...