Canonical Allele Identifier: CA997262936

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308814-GGCGGGGGGCGTGGGT-G
• gnomAD v4: 19-55308814-GGCGGGGGGCGTGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308816_55308830del , CM000681.2:g.55308816_55308830del	GRCh38
NC_000019.9:g.55820184_55820198del , CM000681.1:g.55820184_55820198del	GRCh37
NC_000019.8:g.60511996_60512010del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+88_2179+102del MANE Select	ENSP00000310649.1:n.2179+88_2179+102del
ENST00000309383.5:c.2179+88_2179+102del	ENSP00000310649.1:n.2179+88_2179+102del
ENST00000326848.7:c.1264+88_1264+102del	ENSP00000320853.7:n.1264+88_1264+102del
ENST00000590333.5:c.2227+88_2227+102del	ENSP00000468190.1:n.2227+88_2227+102del
NM_032430.1:c.2179+88_2179+102del	NP_115806.1:n.2179+88_2179+102del
XM_005259327.2:c.1909+88_1909+102del	XP_005259384.1:n.1909+88_1909+102del
XM_011527395.1:c.1936+88_1936+102del	XP_011525697.1:n.1936+88_1936+102del
XR_430213.2:n.2162+88_2162+102del
XM_005259327.3:c.1909+88_1909+102del	XP_005259384.1:n.1909+88_1909+102del
XM_011527395.2:c.1651+88_1651+102del	XP_011525697.2:n.1651+88_1651+102del
XM_024451739.1:c.1954+88_1954+102del	XP_024307507.1:n.1954+88_1954+102del
XR_430213.4:n.2460+88_2460+102del
NM_032430.2:c.2179+88_2179+102del MANE Select	NP_115806.1:n.2179+88_2179+102del