Canonical Allele Identifier: CA2814886385

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308821_55308831del , CM000681.2:g.55308821_55308831del	GRCh38
NC_000019.9:g.55820189_55820199del , CM000681.1:g.55820189_55820199del	GRCh37
NC_000019.8:g.60512001_60512011del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+93_2179+103del MANE Select	ENSP00000310649.1:n.2179+93_2179+103del
ENST00000309383.5:c.2179+93_2179+103del	ENSP00000310649.1:n.2179+93_2179+103del
ENST00000326848.7:c.1264+93_1264+103del	ENSP00000320853.7:n.1264+93_1264+103del
ENST00000590333.5:c.2227+93_2227+103del	ENSP00000468190.1:n.2227+93_2227+103del
NM_032430.1:c.2179+93_2179+103del	NP_115806.1:n.2179+93_2179+103del
XM_005259327.2:c.1909+93_1909+103del	XP_005259384.1:n.1909+93_1909+103del
XM_011527395.1:c.1936+93_1936+103del	XP_011525697.1:n.1936+93_1936+103del
XR_430213.2:n.2162+93_2162+103del
XM_005259327.3:c.1909+93_1909+103del	XP_005259384.1:n.1909+93_1909+103del
XM_011527395.2:c.1651+93_1651+103del	XP_011525697.2:n.1651+93_1651+103del
XM_024451739.1:c.1954+93_1954+103del	XP_024307507.1:n.1954+93_1954+103del
XR_430213.4:n.2460+93_2460+103del
NM_032430.2:c.2179+93_2179+103del MANE Select	NP_115806.1:n.2179+93_2179+103del