Canonical Allele Identifier: CA2587278210

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308759-CGTGGGTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308760_55308767del , CM000681.2:g.55308760_55308767del	GRCh38
NC_000019.9:g.55820128_55820135del , CM000681.1:g.55820128_55820135del	GRCh37
NC_000019.8:g.60511940_60511947del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+32_2179+39del MANE Select	ENSP00000310649.1:n.2179+32_2179+39del
ENST00000309383.5:c.2179+32_2179+39del	ENSP00000310649.1:n.2179+32_2179+39del
ENST00000326848.7:c.1264+32_1264+39del	ENSP00000320853.7:n.1264+32_1264+39del
ENST00000590333.5:c.2227+32_2227+39del	ENSP00000468190.1:n.2227+32_2227+39del
NM_032430.1:c.2179+32_2179+39del	NP_115806.1:n.2179+32_2179+39del
XM_005259327.2:c.1909+32_1909+39del	XP_005259384.1:n.1909+32_1909+39del
XM_011527395.1:c.1936+32_1936+39del	XP_011525697.1:n.1936+32_1936+39del
XR_430213.2:n.2162+32_2162+39del
XM_005259327.3:c.1909+32_1909+39del	XP_005259384.1:n.1909+32_1909+39del
XM_011527395.2:c.1651+32_1651+39del	XP_011525697.2:n.1651+32_1651+39del
XM_024451739.1:c.1954+32_1954+39del	XP_024307507.1:n.1954+32_1954+39del
XR_430213.4:n.2460+32_2460+39del
NM_032430.2:c.2179+32_2179+39del MANE Select	NP_115806.1:n.2179+32_2179+39del