Canonical Allele Identifier: CA2576894936

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308700_55308702del , CM000681.2:g.55308700_55308702del	GRCh38
NC_000019.9:g.55820068_55820070del , CM000681.1:g.55820068_55820070del	GRCh37
NC_000019.8:g.60511880_60511882del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2151_2153del MANE Select	ENSP00000310649.1:p.Asp718del
ENST00000309383.5:c.2151_2153del	ENSP00000310649.1:p.Asp718del
ENST00000326848.7:c.1236_1238del	ENSP00000320853.7:p.Asp413del
ENST00000590333.5:c.2199_2201del	ENSP00000468190.1:p.Asp734del
NM_032430.1:c.2151_2153del	NP_115806.1:p.Asp718del
XM_005259327.2:c.1881_1883del	XP_005259384.1:p.Asp628del
XM_011527395.1:c.1908_1910del	XP_011525697.1:p.Asp637del
XR_430213.2:n.2134_2136del
XM_005259327.3:c.1881_1883del	XP_005259384.1:p.Asp628del
XM_011527395.2:c.1623_1625del	XP_011525697.2:p.Asp542del
XM_024451739.1:c.1926_1928del	XP_024307507.1:p.Asp643del
XR_430213.4:n.2432_2434del
NM_032430.2:c.2151_2153del MANE Select	NP_115806.1:p.Asp718del