Canonical Allele Identifier: CA997262778

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTTCCTTACATTTCTGGTCCTTCATGGCCT
• gnomAD v4: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTTCCTTACATTTCTGGTCCTTCATGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308336_55308337insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT , CM000681.2:g.55308336_55308337insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT	GRCh38
NC_000019.9:g.55819704_55819705insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT , CM000681.1:g.55819704_55819705insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT	GRCh37
NC_000019.8:g.60511516_60511517insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-303_2090-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT MANE Select	ENSP00000310649.1:n.2090-303_2090-302insCCTTACATTTCTGGTCCTTCA...
ENST00000309383.5:c.2090-303_2090-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT	ENSP00000310649.1:n.2090-303_2090-302insCCTTACATTTCTGGTCCTTCA...
ENST00000326848.7:c.1175-303_1175-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT	ENSP00000320853.7:n.1175-303_1175-302insCCTTACATTTCTGGTCCTTCA...
ENST00000590333.5:c.2138-303_2138-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT	ENSP00000468190.1:n.2138-303_2138-302insCCTTACATTTCTGGTCCTTCA...
NM_032430.1:c.2090-303_2090-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT	NP_115806.1:n.2090-303_2090-302insCCTTACATTTCTGGTCCTTCATGGCCT...
XM_005259327.2:c.1820-303_1820-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT	XP_005259384.1:n.1820-303_1820-302insCCTTACATTTCTGGTCCTTCATGG...
XM_011527395.1:c.1847-303_1847-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT	XP_011525697.1:n.1847-303_1847-302insCCTTACATTTCTGGTCCTTCATGG...
XR_430213.2:n.2073-303_2073-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT
XM_005259327.3:c.1820-303_1820-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT	XP_005259384.1:n.1820-303_1820-302insCCTTACATTTCTGGTCCTTCATGG...
XM_011527395.2:c.1562-303_1562-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT	XP_011525697.2:n.1562-303_1562-302insCCTTACATTTCTGGTCCTTCATGG...
XM_024451739.1:c.1865-303_1865-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT	XP_024307507.1:n.1865-303_1865-302insCCTTACATTTCTGGTCCTTCATGG...
XR_430213.4:n.2371-303_2371-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT
NM_032430.2:c.2090-303_2090-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT MANE Select	NP_115806.1:n.2090-303_2090-302insCCTTACATTTCTGGTCCTTCATGGCCT...