Canonical Allele Identifier: CA2343355558

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308043_55308045delinsCAG , CM000681.2:g.55308043_55308045delinsCAG	GRCh38
NC_000019.9:g.55819411_55819413delinsCAG , CM000681.1:g.55819411_55819413delinsCAG	GRCh37
NC_000019.8:g.60511223_60511225delinsCAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-596_2090-594delinsCAG MANE Select	ENSP00000310649.1:n.2090-596_2090-594delinsCAG
ENST00000309383.5:c.2090-596_2090-594delinsCAG	ENSP00000310649.1:n.2090-596_2090-594delinsCAG
ENST00000326848.7:c.1175-596_1175-594delinsCAG	ENSP00000320853.7:n.1175-596_1175-594delinsCAG
ENST00000590333.5:c.2138-596_2138-594delinsCAG	ENSP00000468190.1:n.2138-596_2138-594delinsCAG
NM_032430.1:c.2090-596_2090-594delinsCAG	NP_115806.1:n.2090-596_2090-594delinsCAG
XM_005259327.2:c.1820-596_1820-594delinsCAG	XP_005259384.1:n.1820-596_1820-594delinsCAG
XM_011527395.1:c.1847-596_1847-594delinsCAG	XP_011525697.1:n.1847-596_1847-594delinsCAG
XR_430213.2:n.2073-596_2073-594delinsCAG
XM_005259327.3:c.1820-596_1820-594delinsCAG	XP_005259384.1:n.1820-596_1820-594delinsCAG
XM_011527395.2:c.1562-596_1562-594delinsCAG	XP_011525697.2:n.1562-596_1562-594delinsCAG
XM_024451739.1:c.1865-596_1865-594delinsCAG	XP_024307507.1:n.1865-596_1865-594delinsCAG
XR_430213.4:n.2371-596_2371-594delinsCAG
NM_032430.2:c.2090-596_2090-594delinsCAG MANE Select	NP_115806.1:n.2090-596_2090-594delinsCAG