Canonical Allele Identifier: CA2343355959

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308791_55308810delinsCGTGGGTGGCGGGGGGCGTG , CM000681.2:g.55308791_55308810delinsCGTGGGTGGCGGGGGGCGTG	GRCh38
NC_000019.9:g.55820159_55820178delinsCGTGGGTGGCGGGGGGCGTG , CM000681.1:g.55820159_55820178delinsCGTGGGTGGCGGGGGGCGTG	GRCh37
NC_000019.8:g.60511971_60511990delinsCGTGGGTGGCGGGGGGCGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+63_2179+82delinsCGTGGGTGGCGGGGGGCGTG MANE Select	ENSP00000310649.1:n.2179+63_2179+82delinsCGTGGGTGGCGGGGGGCGTG...
ENST00000309383.5:c.2179+63_2179+82delinsCGTGGGTGGCGGGGGGCGTG	ENSP00000310649.1:n.2179+63_2179+82delinsCGTGGGTGGCGGGGGGCGTG...
ENST00000326848.7:c.1264+63_1264+82delinsCGTGGGTGGCGGGGGGCGTG	ENSP00000320853.7:n.1264+63_1264+82delinsCGTGGGTGGCGGGGGGCGTG...
ENST00000590333.5:c.2227+63_2227+82delinsCGTGGGTGGCGGGGGGCGTG	ENSP00000468190.1:n.2227+63_2227+82delinsCGTGGGTGGCGGGGGGCGTG...
NM_032430.1:c.2179+63_2179+82delinsCGTGGGTGGCGGGGGGCGTG	NP_115806.1:n.2179+63_2179+82delinsCGTGGGTGGCGGGGGGCGTG
XM_005259327.2:c.1909+63_1909+82delinsCGTGGGTGGCGGGGGGCGTG	XP_005259384.1:n.1909+63_1909+82delinsCGTGGGTGGCGGGGGGCGTG
XM_011527395.1:c.1936+63_1936+82delinsCGTGGGTGGCGGGGGGCGTG	XP_011525697.1:n.1936+63_1936+82delinsCGTGGGTGGCGGGGGGCGTG
XR_430213.2:n.2162+63_2162+82delinsCGTGGGTGGCGGGGGGCGTG
XM_005259327.3:c.1909+63_1909+82delinsCGTGGGTGGCGGGGGGCGTG	XP_005259384.1:n.1909+63_1909+82delinsCGTGGGTGGCGGGGGGCGTG
XM_011527395.2:c.1651+63_1651+82delinsCGTGGGTGGCGGGGGGCGTG	XP_011525697.2:n.1651+63_1651+82delinsCGTGGGTGGCGGGGGGCGTG
XM_024451739.1:c.1954+63_1954+82delinsCGTGGGTGGCGGGGGGCGTG	XP_024307507.1:n.1954+63_1954+82delinsCGTGGGTGGCGGGGGGCGTG
XR_430213.4:n.2460+63_2460+82delinsCGTGGGTGGCGGGGGGCGTG
NM_032430.2:c.2179+63_2179+82delinsCGTGGGTGGCGGGGGGCGTG MANE Select	NP_115806.1:n.2179+63_2179+82delinsCGTGGGTGGCGGGGGGCGTG