Canonical Allele Identifier: CA2343355524

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308004_55308007delinsTTTG , CM000681.2:g.55308004_55308007delinsTTTG	GRCh38
NC_000019.9:g.55819372_55819375delinsTTTG , CM000681.1:g.55819372_55819375delinsTTTG	GRCh37
NC_000019.8:g.60511184_60511187delinsTTTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-635_2090-632delinsTTTG MANE Select	ENSP00000310649.1:n.2090-635_2090-632delinsTTTG
ENST00000309383.5:c.2090-635_2090-632delinsTTTG	ENSP00000310649.1:n.2090-635_2090-632delinsTTTG
ENST00000326848.7:c.1175-635_1175-632delinsTTTG	ENSP00000320853.7:n.1175-635_1175-632delinsTTTG
ENST00000590333.5:c.2138-635_2138-632delinsTTTG	ENSP00000468190.1:n.2138-635_2138-632delinsTTTG
NM_032430.1:c.2090-635_2090-632delinsTTTG	NP_115806.1:n.2090-635_2090-632delinsTTTG
XM_005259327.2:c.1820-635_1820-632delinsTTTG	XP_005259384.1:n.1820-635_1820-632delinsTTTG
XM_011527395.1:c.1847-635_1847-632delinsTTTG	XP_011525697.1:n.1847-635_1847-632delinsTTTG
XR_430213.2:n.2073-635_2073-632delinsTTTG
XM_005259327.3:c.1820-635_1820-632delinsTTTG	XP_005259384.1:n.1820-635_1820-632delinsTTTG
XM_011527395.2:c.1562-635_1562-632delinsTTTG	XP_011525697.2:n.1562-635_1562-632delinsTTTG
XM_024451739.1:c.1865-635_1865-632delinsTTTG	XP_024307507.1:n.1865-635_1865-632delinsTTTG
XR_430213.4:n.2371-635_2371-632delinsTTTG
NM_032430.2:c.2090-635_2090-632delinsTTTG MANE Select	NP_115806.1:n.2090-635_2090-632delinsTTTG