Canonical Allele Identifier: CA2587278234

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308778-GGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308781_55308811del , CM000681.2:g.55308781_55308811del	GRCh38
NC_000019.9:g.55820149_55820179del , CM000681.1:g.55820149_55820179del	GRCh37
NC_000019.8:g.60511961_60511991del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+53_2179+83del MANE Select	ENSP00000310649.1:n.2179+53_2179+83del
ENST00000309383.5:c.2179+53_2179+83del	ENSP00000310649.1:n.2179+53_2179+83del
ENST00000326848.7:c.1264+53_1264+83del	ENSP00000320853.7:n.1264+53_1264+83del
ENST00000590333.5:c.2227+53_2227+83del	ENSP00000468190.1:n.2227+53_2227+83del
NM_032430.1:c.2179+53_2179+83del	NP_115806.1:n.2179+53_2179+83del
XM_005259327.2:c.1909+53_1909+83del	XP_005259384.1:n.1909+53_1909+83del
XM_011527395.1:c.1936+53_1936+83del	XP_011525697.1:n.1936+53_1936+83del
XR_430213.2:n.2162+53_2162+83del
XM_005259327.3:c.1909+53_1909+83del	XP_005259384.1:n.1909+53_1909+83del
XM_011527395.2:c.1651+53_1651+83del	XP_011525697.2:n.1651+53_1651+83del
XM_024451739.1:c.1954+53_1954+83del	XP_024307507.1:n.1954+53_1954+83del
XR_430213.4:n.2460+53_2460+83del
NM_032430.2:c.2179+53_2179+83del MANE Select	NP_115806.1:n.2179+53_2179+83del