Canonical Allele Identifier: CA2587278244

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308790-GCGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308791_55308793del , CM000681.2:g.55308791_55308793del	GRCh38
NC_000019.9:g.55820159_55820161del , CM000681.1:g.55820159_55820161del	GRCh37
NC_000019.8:g.60511971_60511973del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+63_2179+65del MANE Select	ENSP00000310649.1:n.2179+63_2179+65del
ENST00000309383.5:c.2179+63_2179+65del	ENSP00000310649.1:n.2179+63_2179+65del
ENST00000326848.7:c.1264+63_1264+65del	ENSP00000320853.7:n.1264+63_1264+65del
ENST00000590333.5:c.2227+63_2227+65del	ENSP00000468190.1:n.2227+63_2227+65del
NM_032430.1:c.2179+63_2179+65del	NP_115806.1:n.2179+63_2179+65del
XM_005259327.2:c.1909+63_1909+65del	XP_005259384.1:n.1909+63_1909+65del
XM_011527395.1:c.1936+63_1936+65del	XP_011525697.1:n.1936+63_1936+65del
XR_430213.2:n.2162+63_2162+65del
XM_005259327.3:c.1909+63_1909+65del	XP_005259384.1:n.1909+63_1909+65del
XM_011527395.2:c.1651+63_1651+65del	XP_011525697.2:n.1651+63_1651+65del
XM_024451739.1:c.1954+63_1954+65del	XP_024307507.1:n.1954+63_1954+65del
XR_430213.4:n.2460+63_2460+65del
NM_032430.2:c.2179+63_2179+65del MANE Select	NP_115806.1:n.2179+63_2179+65del