Canonical Allele Identifier: CA2587278220

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308764-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308764_55308765insC , CM000681.2:g.55308764_55308765insC	GRCh38
NC_000019.9:g.55820132_55820133insC , CM000681.1:g.55820132_55820133insC	GRCh37
NC_000019.8:g.60511944_60511945insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+36_2179+37insC MANE Select	ENSP00000310649.1:n.2179+36_2179+37insC
ENST00000309383.5:c.2179+36_2179+37insC	ENSP00000310649.1:n.2179+36_2179+37insC
ENST00000326848.7:c.1264+36_1264+37insC	ENSP00000320853.7:n.1264+36_1264+37insC
ENST00000590333.5:c.2227+36_2227+37insC	ENSP00000468190.1:n.2227+36_2227+37insC
NM_032430.1:c.2179+36_2179+37insC	NP_115806.1:n.2179+36_2179+37insC
XM_005259327.2:c.1909+36_1909+37insC	XP_005259384.1:n.1909+36_1909+37insC
XM_011527395.1:c.1936+36_1936+37insC	XP_011525697.1:n.1936+36_1936+37insC
XR_430213.2:n.2162+36_2162+37insC
XM_005259327.3:c.1909+36_1909+37insC	XP_005259384.1:n.1909+36_1909+37insC
XM_011527395.2:c.1651+36_1651+37insC	XP_011525697.2:n.1651+36_1651+37insC
XM_024451739.1:c.1954+36_1954+37insC	XP_024307507.1:n.1954+36_1954+37insC
XR_430213.4:n.2460+36_2460+37insC
NM_032430.2:c.2179+36_2179+37insC MANE Select	NP_115806.1:n.2179+36_2179+37insC