Canonical Allele Identifier: CA633862570

Gene: BRSK1

Linked Data

• dbSNP Id: rs1375685111
• gnomAD v2: 19-55820134-GGCGGGGGCC-G
• MyVariant Identifiers: chr19:g.55820135_55820143del (hg19) ; chr19:g.55308767_55308775del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308768_55308776del , CM000681.2:g.55308768_55308776del	GRCh38
NC_000019.9:g.55820136_55820144del , CM000681.1:g.55820136_55820144del	GRCh37
NC_000019.8:g.60511948_60511956del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+40_2179+48del MANE Select	ENSP00000310649.1:n.2179+40_2179+48del
ENST00000309383.5:c.2179+40_2179+48del	ENSP00000310649.1:n.2179+40_2179+48del
ENST00000326848.7:c.1264+40_1264+48del	ENSP00000320853.7:n.1264+40_1264+48del
ENST00000590333.5:c.2227+40_2227+48del	ENSP00000468190.1:n.2227+40_2227+48del
NM_032430.1:c.2179+40_2179+48del	NP_115806.1:n.2179+40_2179+48del
XM_005259327.2:c.1909+40_1909+48del	XP_005259384.1:n.1909+40_1909+48del
XM_011527395.1:c.1936+40_1936+48del	XP_011525697.1:n.1936+40_1936+48del
XR_430213.2:n.2162+40_2162+48del
XM_005259327.3:c.1909+40_1909+48del	XP_005259384.1:n.1909+40_1909+48del
XM_011527395.2:c.1651+40_1651+48del	XP_011525697.2:n.1651+40_1651+48del
XM_024451739.1:c.1954+40_1954+48del	XP_024307507.1:n.1954+40_1954+48del
XR_430213.4:n.2460+40_2460+48del
NM_032430.2:c.2179+40_2179+48del MANE Select	NP_115806.1:n.2179+40_2179+48del