Canonical Allele Identifier: CA997262766

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308332_55308333insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA , CM000681.2:g.55308332_55308333insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA	GRCh38
NC_000019.9:g.55819700_55819701insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA , CM000681.1:g.55819700_55819701insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA	GRCh37
NC_000019.8:g.60511512_60511513insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-307_2090-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA MANE Select	ENSP00000310649.1:n.2090-307_2090-306insCTTTTCTTACATTTCTGGTCC...
ENST00000309383.5:c.2090-307_2090-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA	ENSP00000310649.1:n.2090-307_2090-306insCTTTTCTTACATTTCTGGTCC...
ENST00000326848.7:c.1175-307_1175-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA	ENSP00000320853.7:n.1175-307_1175-306insCTTTTCTTACATTTCTGGTCC...
ENST00000590333.5:c.2138-307_2138-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA	ENSP00000468190.1:n.2138-307_2138-306insCTTTTCTTACATTTCTGGTCC...
NM_032430.1:c.2090-307_2090-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA	NP_115806.1:n.2090-307_2090-306insCTTTTCTTACATTTCTGGTCCTTCATG...
XM_005259327.2:c.1820-307_1820-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA	XP_005259384.1:n.1820-307_1820-306insCTTTTCTTACATTTCTGGTCCTTC...
XM_011527395.1:c.1847-307_1847-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA	XP_011525697.1:n.1847-307_1847-306insCTTTTCTTACATTTCTGGTCCTTC...
XR_430213.2:n.2073-307_2073-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA
XM_005259327.3:c.1820-307_1820-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA	XP_005259384.1:n.1820-307_1820-306insCTTTTCTTACATTTCTGGTCCTTC...
XM_011527395.2:c.1562-307_1562-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA	XP_011525697.2:n.1562-307_1562-306insCTTTTCTTACATTTCTGGTCCTTC...
XM_024451739.1:c.1865-307_1865-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA	XP_024307507.1:n.1865-307_1865-306insCTTTTCTTACATTTCTGGTCCTTC...
XR_430213.4:n.2371-307_2371-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA
NM_032430.2:c.2090-307_2090-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA MANE Select	NP_115806.1:n.2090-307_2090-306insCTTTTCTTACATTTCTGGTCCTTCATG...