Canonical Allele Identifier: CA997262779

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088695757
• gnomAD v3: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTGTCTTACATTTCTGGTCCTTCATGGCCT
• gnomAD v4: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTGTCTTACATTTCTGGTCCTTCATGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308335_55308336insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT , CM000681.2:g.55308335_55308336insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT	GRCh38
NC_000019.9:g.55819703_55819704insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT , CM000681.1:g.55819703_55819704insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT	GRCh37
NC_000019.8:g.60511515_60511516insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-304_2090-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT MANE Select	ENSP00000310649.1:n.2090-304_2090-303insGTCTTACATTTCTGGTCCTTC...
ENST00000309383.5:c.2090-304_2090-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT	ENSP00000310649.1:n.2090-304_2090-303insGTCTTACATTTCTGGTCCTTC...
ENST00000326848.7:c.1175-304_1175-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT	ENSP00000320853.7:n.1175-304_1175-303insGTCTTACATTTCTGGTCCTTC...
ENST00000590333.5:c.2138-304_2138-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT	ENSP00000468190.1:n.2138-304_2138-303insGTCTTACATTTCTGGTCCTTC...
NM_032430.1:c.2090-304_2090-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT	NP_115806.1:n.2090-304_2090-303insGTCTTACATTTCTGGTCCTTCATGGCC...
XM_005259327.2:c.1820-304_1820-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT	XP_005259384.1:n.1820-304_1820-303insGTCTTACATTTCTGGTCCTTCATG...
XM_011527395.1:c.1847-304_1847-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT	XP_011525697.1:n.1847-304_1847-303insGTCTTACATTTCTGGTCCTTCATG...
XR_430213.2:n.2073-304_2073-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT
XM_005259327.3:c.1820-304_1820-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT	XP_005259384.1:n.1820-304_1820-303insGTCTTACATTTCTGGTCCTTCATG...
XM_011527395.2:c.1562-304_1562-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT	XP_011525697.2:n.1562-304_1562-303insGTCTTACATTTCTGGTCCTTCATG...
XM_024451739.1:c.1865-304_1865-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT	XP_024307507.1:n.1865-304_1865-303insGTCTTACATTTCTGGTCCTTCATG...
XR_430213.4:n.2371-304_2371-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT
NM_032430.2:c.2090-304_2090-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT MANE Select	NP_115806.1:n.2090-304_2090-303insGTCTTACATTTCTGGTCCTTCATGGCC...