Canonical Allele Identifier: CA2587278005

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308563-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308566del , CM000681.2:g.55308566del	GRCh38
NC_000019.9:g.55819934del , CM000681.1:g.55819934del	GRCh37
NC_000019.8:g.60511746del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-73del MANE Select	ENSP00000310649.1:n.2090-73del
ENST00000309383.5:c.2090-73del	ENSP00000310649.1:n.2090-73del
ENST00000326848.7:c.1175-73del	ENSP00000320853.7:n.1175-73del
ENST00000590333.5:c.2138-73del	ENSP00000468190.1:n.2138-73del
NM_032430.1:c.2090-73del	NP_115806.1:n.2090-73del
XM_005259327.2:c.1820-73del	XP_005259384.1:n.1820-73del
XM_011527395.1:c.1847-73del	XP_011525697.1:n.1847-73del
XR_430213.2:n.2073-73del
XM_005259327.3:c.1820-73del	XP_005259384.1:n.1820-73del
XM_011527395.2:c.1562-73del	XP_011525697.2:n.1562-73del
XM_024451739.1:c.1865-73del	XP_024307507.1:n.1865-73del
XR_430213.4:n.2371-73del
NM_032430.2:c.2090-73del MANE Select	NP_115806.1:n.2090-73del