Canonical Allele Identifier: CA2343355542

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308024_55308028delinsGTTTT , CM000681.2:g.55308024_55308028delinsGTTTT	GRCh38
NC_000019.9:g.55819392_55819396delinsGTTTT , CM000681.1:g.55819392_55819396delinsGTTTT	GRCh37
NC_000019.8:g.60511204_60511208delinsGTTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-615_2090-611delinsGTTTT MANE Select	ENSP00000310649.1:n.2090-615_2090-611delinsGTTTT
ENST00000309383.5:c.2090-615_2090-611delinsGTTTT	ENSP00000310649.1:n.2090-615_2090-611delinsGTTTT
ENST00000326848.7:c.1175-615_1175-611delinsGTTTT	ENSP00000320853.7:n.1175-615_1175-611delinsGTTTT
ENST00000590333.5:c.2138-615_2138-611delinsGTTTT	ENSP00000468190.1:n.2138-615_2138-611delinsGTTTT
NM_032430.1:c.2090-615_2090-611delinsGTTTT	NP_115806.1:n.2090-615_2090-611delinsGTTTT
XM_005259327.2:c.1820-615_1820-611delinsGTTTT	XP_005259384.1:n.1820-615_1820-611delinsGTTTT
XM_011527395.1:c.1847-615_1847-611delinsGTTTT	XP_011525697.1:n.1847-615_1847-611delinsGTTTT
XR_430213.2:n.2073-615_2073-611delinsGTTTT
XM_005259327.3:c.1820-615_1820-611delinsGTTTT	XP_005259384.1:n.1820-615_1820-611delinsGTTTT
XM_011527395.2:c.1562-615_1562-611delinsGTTTT	XP_011525697.2:n.1562-615_1562-611delinsGTTTT
XM_024451739.1:c.1865-615_1865-611delinsGTTTT	XP_024307507.1:n.1865-615_1865-611delinsGTTTT
XR_430213.4:n.2371-615_2371-611delinsGTTTT
NM_032430.2:c.2090-615_2090-611delinsGTTTT MANE Select	NP_115806.1:n.2090-615_2090-611delinsGTTTT