Canonical Allele Identifier: CA2587278241

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308787-G-GCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308787_55308788insCAGA , CM000681.2:g.55308787_55308788insCAGA	GRCh38
NC_000019.9:g.55820155_55820156insCAGA , CM000681.1:g.55820155_55820156insCAGA	GRCh37
NC_000019.8:g.60511967_60511968insCAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+59_2179+60insCAGA MANE Select	ENSP00000310649.1:n.2179+59_2179+60insCAGA
ENST00000309383.5:c.2179+59_2179+60insCAGA	ENSP00000310649.1:n.2179+59_2179+60insCAGA
ENST00000326848.7:c.1264+59_1264+60insCAGA	ENSP00000320853.7:n.1264+59_1264+60insCAGA
ENST00000590333.5:c.2227+59_2227+60insCAGA	ENSP00000468190.1:n.2227+59_2227+60insCAGA
NM_032430.1:c.2179+59_2179+60insCAGA	NP_115806.1:n.2179+59_2179+60insCAGA
XM_005259327.2:c.1909+59_1909+60insCAGA	XP_005259384.1:n.1909+59_1909+60insCAGA
XM_011527395.1:c.1936+59_1936+60insCAGA	XP_011525697.1:n.1936+59_1936+60insCAGA
XR_430213.2:n.2162+59_2162+60insCAGA
XM_005259327.3:c.1909+59_1909+60insCAGA	XP_005259384.1:n.1909+59_1909+60insCAGA
XM_011527395.2:c.1651+59_1651+60insCAGA	XP_011525697.2:n.1651+59_1651+60insCAGA
XM_024451739.1:c.1954+59_1954+60insCAGA	XP_024307507.1:n.1954+59_1954+60insCAGA
XR_430213.4:n.2460+59_2460+60insCAGA
NM_032430.2:c.2179+59_2179+60insCAGA MANE Select	NP_115806.1:n.2179+59_2179+60insCAGA