Canonical Allele Identifier: CA2343355514

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55307987_55307991delinsATTTC , CM000681.2:g.55307987_55307991delinsATTTC	GRCh38
NC_000019.9:g.55819355_55819359delinsATTTC , CM000681.1:g.55819355_55819359delinsATTTC	GRCh37
NC_000019.8:g.60511167_60511171delinsATTTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-652_2090-648delinsATTTC MANE Select	ENSP00000310649.1:n.2090-652_2090-648delinsATTTC
ENST00000309383.5:c.2090-652_2090-648delinsATTTC	ENSP00000310649.1:n.2090-652_2090-648delinsATTTC
ENST00000326848.7:c.1175-652_1175-648delinsATTTC	ENSP00000320853.7:n.1175-652_1175-648delinsATTTC
ENST00000590333.5:c.2138-652_2138-648delinsATTTC	ENSP00000468190.1:n.2138-652_2138-648delinsATTTC
NM_032430.1:c.2090-652_2090-648delinsATTTC	NP_115806.1:n.2090-652_2090-648delinsATTTC
XM_005259327.2:c.1820-652_1820-648delinsATTTC	XP_005259384.1:n.1820-652_1820-648delinsATTTC
XM_011527395.1:c.1847-652_1847-648delinsATTTC	XP_011525697.1:n.1847-652_1847-648delinsATTTC
XR_430213.2:n.2073-652_2073-648delinsATTTC
XM_005259327.3:c.1820-652_1820-648delinsATTTC	XP_005259384.1:n.1820-652_1820-648delinsATTTC
XM_011527395.2:c.1562-652_1562-648delinsATTTC	XP_011525697.2:n.1562-652_1562-648delinsATTTC
XM_024451739.1:c.1865-652_1865-648delinsATTTC	XP_024307507.1:n.1865-652_1865-648delinsATTTC
XR_430213.4:n.2371-652_2371-648delinsATTTC
NM_032430.2:c.2090-652_2090-648delinsATTTC MANE Select	NP_115806.1:n.2090-652_2090-648delinsATTTC