Canonical Allele Identifier: CA997262743

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308327_55308328insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA , CM000681.2:g.55308327_55308328insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	GRCh38
NC_000019.9:g.55819695_55819696insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA , CM000681.1:g.55819695_55819696insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	GRCh37
NC_000019.8:g.60511507_60511508insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-312_2090-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA MANE Select	ENSP00000310649.1:n.2090-312_2090-311insCCTTATTTTTCTTACATTTCT...
ENST00000309383.5:c.2090-312_2090-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	ENSP00000310649.1:n.2090-312_2090-311insCCTTATTTTTCTTACATTTCT...
ENST00000326848.7:c.1175-312_1175-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	ENSP00000320853.7:n.1175-312_1175-311insCCTTATTTTTCTTACATTTCT...
ENST00000590333.5:c.2138-312_2138-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	ENSP00000468190.1:n.2138-312_2138-311insCCTTATTTTTCTTACATTTCT...
NM_032430.1:c.2090-312_2090-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	NP_115806.1:n.2090-312_2090-311insCCTTATTTTTCTTACATTTCTGGTCCT...
XM_005259327.2:c.1820-312_1820-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	XP_005259384.1:n.1820-312_1820-311insCCTTATTTTTCTTACATTTCTGGT...
XM_011527395.1:c.1847-312_1847-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	XP_011525697.1:n.1847-312_1847-311insCCTTATTTTTCTTACATTTCTGGT...
XR_430213.2:n.2073-312_2073-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA
XM_005259327.3:c.1820-312_1820-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	XP_005259384.1:n.1820-312_1820-311insCCTTATTTTTCTTACATTTCTGGT...
XM_011527395.2:c.1562-312_1562-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	XP_011525697.2:n.1562-312_1562-311insCCTTATTTTTCTTACATTTCTGGT...
XM_024451739.1:c.1865-312_1865-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	XP_024307507.1:n.1865-312_1865-311insCCTTATTTTTCTTACATTTCTGGT...
XR_430213.4:n.2371-312_2371-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA
NM_032430.2:c.2090-312_2090-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA MANE Select	NP_115806.1:n.2090-312_2090-311insCCTTATTTTTCTTACATTTCTGGTCCT...