Canonical Allele Identifier: CA2343355532

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308015_55308024delinsTGTTGTTTGG , CM000681.2:g.55308015_55308024delinsTGTTGTTTGG	GRCh38
NC_000019.9:g.55819383_55819392delinsTGTTGTTTGG , CM000681.1:g.55819383_55819392delinsTGTTGTTTGG	GRCh37
NC_000019.8:g.60511195_60511204delinsTGTTGTTTGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-624_2090-615delinsTGTTGTTTGG MANE Select	ENSP00000310649.1:n.2090-624_2090-615delinsTGTTGTTTGG
ENST00000309383.5:c.2090-624_2090-615delinsTGTTGTTTGG	ENSP00000310649.1:n.2090-624_2090-615delinsTGTTGTTTGG
ENST00000326848.7:c.1175-624_1175-615delinsTGTTGTTTGG	ENSP00000320853.7:n.1175-624_1175-615delinsTGTTGTTTGG
ENST00000590333.5:c.2138-624_2138-615delinsTGTTGTTTGG	ENSP00000468190.1:n.2138-624_2138-615delinsTGTTGTTTGG
NM_032430.1:c.2090-624_2090-615delinsTGTTGTTTGG	NP_115806.1:n.2090-624_2090-615delinsTGTTGTTTGG
XM_005259327.2:c.1820-624_1820-615delinsTGTTGTTTGG	XP_005259384.1:n.1820-624_1820-615delinsTGTTGTTTGG
XM_011527395.1:c.1847-624_1847-615delinsTGTTGTTTGG	XP_011525697.1:n.1847-624_1847-615delinsTGTTGTTTGG
XR_430213.2:n.2073-624_2073-615delinsTGTTGTTTGG
XM_005259327.3:c.1820-624_1820-615delinsTGTTGTTTGG	XP_005259384.1:n.1820-624_1820-615delinsTGTTGTTTGG
XM_011527395.2:c.1562-624_1562-615delinsTGTTGTTTGG	XP_011525697.2:n.1562-624_1562-615delinsTGTTGTTTGG
XM_024451739.1:c.1865-624_1865-615delinsTGTTGTTTGG	XP_024307507.1:n.1865-624_1865-615delinsTGTTGTTTGG
XR_430213.4:n.2371-624_2371-615delinsTGTTGTTTGG
NM_032430.2:c.2090-624_2090-615delinsTGTTGTTTGG MANE Select	NP_115806.1:n.2090-624_2090-615delinsTGTTGTTTGG