Canonical Allele Identifier: CA2343355971

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308799_55308800delinsGC , CM000681.2:g.55308799_55308800delinsGC	GRCh38
NC_000019.9:g.55820167_55820168delinsGC , CM000681.1:g.55820167_55820168delinsGC	GRCh37
NC_000019.8:g.60511979_60511980delinsGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+71_2179+72delinsGC MANE Select	ENSP00000310649.1:n.2179+71_2179+72delinsGC
ENST00000309383.5:c.2179+71_2179+72delinsGC	ENSP00000310649.1:n.2179+71_2179+72delinsGC
ENST00000326848.7:c.1264+71_1264+72delinsGC	ENSP00000320853.7:n.1264+71_1264+72delinsGC
ENST00000590333.5:c.2227+71_2227+72delinsGC	ENSP00000468190.1:n.2227+71_2227+72delinsGC
NM_032430.1:c.2179+71_2179+72delinsGC	NP_115806.1:n.2179+71_2179+72delinsGC
XM_005259327.2:c.1909+71_1909+72delinsGC	XP_005259384.1:n.1909+71_1909+72delinsGC
XM_011527395.1:c.1936+71_1936+72delinsGC	XP_011525697.1:n.1936+71_1936+72delinsGC
XR_430213.2:n.2162+71_2162+72delinsGC
XM_005259327.3:c.1909+71_1909+72delinsGC	XP_005259384.1:n.1909+71_1909+72delinsGC
XM_011527395.2:c.1651+71_1651+72delinsGC	XP_011525697.2:n.1651+71_1651+72delinsGC
XM_024451739.1:c.1954+71_1954+72delinsGC	XP_024307507.1:n.1954+71_1954+72delinsGC
XR_430213.4:n.2460+71_2460+72delinsGC
NM_032430.2:c.2179+71_2179+72delinsGC MANE Select	NP_115806.1:n.2179+71_2179+72delinsGC