Canonical Allele Identifier: CA2515100557

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308321_55308322insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG , CM000681.2:g.55308321_55308322insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	GRCh38
NC_000019.9:g.55819689_55819690insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG , CM000681.1:g.55819689_55819690insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	GRCh37
NC_000019.8:g.60511501_60511502insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-318_2090-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG MANE Select	ENSP00000310649.1:n.2090-318_2090-317insTCTCCAACTTATTTTTCTTAC...
ENST00000309383.5:c.2090-318_2090-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	ENSP00000310649.1:n.2090-318_2090-317insTCTCCAACTTATTTTTCTTAC...
ENST00000326848.7:c.1175-318_1175-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	ENSP00000320853.7:n.1175-318_1175-317insTCTCCAACTTATTTTTCTTAC...
ENST00000590333.5:c.2138-318_2138-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	ENSP00000468190.1:n.2138-318_2138-317insTCTCCAACTTATTTTTCTTAC...
NM_032430.1:c.2090-318_2090-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	NP_115806.1:n.2090-318_2090-317insTCTCCAACTTATTTTTCTTACATTTCT...
XM_005259327.2:c.1820-318_1820-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	XP_005259384.1:n.1820-318_1820-317insTCTCCAACTTATTTTTCTTACATT...
XM_011527395.1:c.1847-318_1847-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	XP_011525697.1:n.1847-318_1847-317insTCTCCAACTTATTTTTCTTACATT...
XR_430213.2:n.2073-318_2073-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG
XM_005259327.3:c.1820-318_1820-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	XP_005259384.1:n.1820-318_1820-317insTCTCCAACTTATTTTTCTTACATT...
XM_011527395.2:c.1562-318_1562-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	XP_011525697.2:n.1562-318_1562-317insTCTCCAACTTATTTTTCTTACATT...
XM_024451739.1:c.1865-318_1865-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	XP_024307507.1:n.1865-318_1865-317insTCTCCAACTTATTTTTCTTACATT...
XR_430213.4:n.2371-318_2371-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG
NM_032430.2:c.2090-318_2090-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG MANE Select	NP_115806.1:n.2090-318_2090-317insTCTCCAACTTATTTTTCTTACATTTCT...