Canonical Allele Identifier: CA997262729

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308354_55308355insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT , CM000681.2:g.55308354_55308355insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT	GRCh38
NC_000019.9:g.55819722_55819723insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT , CM000681.1:g.55819722_55819723insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT	GRCh37
NC_000019.8:g.60511534_60511535insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-285_2090-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT MANE Select	ENSP00000310649.1:n.2090-285_2090-284insCCATGGCCTCTGTACCTGGCT...
ENST00000309383.5:c.2090-285_2090-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT	ENSP00000310649.1:n.2090-285_2090-284insCCATGGCCTCTGTACCTGGCT...
ENST00000326848.7:c.1175-285_1175-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT	ENSP00000320853.7:n.1175-285_1175-284insCCATGGCCTCTGTACCTGGCT...
ENST00000590333.5:c.2138-285_2138-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT	ENSP00000468190.1:n.2138-285_2138-284insCCATGGCCTCTGTACCTGGCT...
NM_032430.1:c.2090-285_2090-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT	NP_115806.1:n.2090-285_2090-284insCCATGGCCTCTGTACCTGGCTCCAACT...
XM_005259327.2:c.1820-285_1820-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT	XP_005259384.1:n.1820-285_1820-284insCCATGGCCTCTGTACCTGGCTCCA...
XM_011527395.1:c.1847-285_1847-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT	XP_011525697.1:n.1847-285_1847-284insCCATGGCCTCTGTACCTGGCTCCA...
XR_430213.2:n.2073-285_2073-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT
XM_005259327.3:c.1820-285_1820-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT	XP_005259384.1:n.1820-285_1820-284insCCATGGCCTCTGTACCTGGCTCCA...
XM_011527395.2:c.1562-285_1562-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT	XP_011525697.2:n.1562-285_1562-284insCCATGGCCTCTGTACCTGGCTCCA...
XM_024451739.1:c.1865-285_1865-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT	XP_024307507.1:n.1865-285_1865-284insCCATGGCCTCTGTACCTGGCTCCA...
XR_430213.4:n.2371-285_2371-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT
NM_032430.2:c.2090-285_2090-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT MANE Select	NP_115806.1:n.2090-285_2090-284insCCATGGCCTCTGTACCTGGCTCCAACT...