Canonical Allele Identifier: CA997262733

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308351_55308352insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT , CM000681.2:g.55308351_55308352insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT	GRCh38
NC_000019.9:g.55819719_55819720insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT , CM000681.1:g.55819719_55819720insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT	GRCh37
NC_000019.8:g.60511531_60511532insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-288_2090-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT MANE Select	ENSP00000310649.1:n.2090-288_2090-287insGCTTCATGGCCTCTGTACCTG...
ENST00000309383.5:c.2090-288_2090-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT	ENSP00000310649.1:n.2090-288_2090-287insGCTTCATGGCCTCTGTACCTG...
ENST00000326848.7:c.1175-288_1175-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT	ENSP00000320853.7:n.1175-288_1175-287insGCTTCATGGCCTCTGTACCTG...
ENST00000590333.5:c.2138-288_2138-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT	ENSP00000468190.1:n.2138-288_2138-287insGCTTCATGGCCTCTGTACCTG...
NM_032430.1:c.2090-288_2090-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT	NP_115806.1:n.2090-288_2090-287insGCTTCATGGCCTCTGTACCTGGCTCCA...
XM_005259327.2:c.1820-288_1820-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT	XP_005259384.1:n.1820-288_1820-287insGCTTCATGGCCTCTGTACCTGGCT...
XM_011527395.1:c.1847-288_1847-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT	XP_011525697.1:n.1847-288_1847-287insGCTTCATGGCCTCTGTACCTGGCT...
XR_430213.2:n.2073-288_2073-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT
XM_005259327.3:c.1820-288_1820-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT	XP_005259384.1:n.1820-288_1820-287insGCTTCATGGCCTCTGTACCTGGCT...
XM_011527395.2:c.1562-288_1562-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT	XP_011525697.2:n.1562-288_1562-287insGCTTCATGGCCTCTGTACCTGGCT...
XM_024451739.1:c.1865-288_1865-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT	XP_024307507.1:n.1865-288_1865-287insGCTTCATGGCCTCTGTACCTGGCT...
XR_430213.4:n.2371-288_2371-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT
NM_032430.2:c.2090-288_2090-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT MANE Select	NP_115806.1:n.2090-288_2090-287insGCTTCATGGCCTCTGTACCTGGCTCCA...