Canonical Allele Identifier: CA997262736

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308342_55308343insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC , CM000681.2:g.55308342_55308343insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC	GRCh38
NC_000019.9:g.55819710_55819711insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC , CM000681.1:g.55819710_55819711insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC	GRCh37
NC_000019.8:g.60511522_60511523insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-297_2090-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC MANE Select	ENSP00000310649.1:n.2090-297_2090-296insCTTTCTGGTCCTTCATGGCCT...
ENST00000309383.5:c.2090-297_2090-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC	ENSP00000310649.1:n.2090-297_2090-296insCTTTCTGGTCCTTCATGGCCT...
ENST00000326848.7:c.1175-297_1175-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC	ENSP00000320853.7:n.1175-297_1175-296insCTTTCTGGTCCTTCATGGCCT...
ENST00000590333.5:c.2138-297_2138-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC	ENSP00000468190.1:n.2138-297_2138-296insCTTTCTGGTCCTTCATGGCCT...
NM_032430.1:c.2090-297_2090-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC	NP_115806.1:n.2090-297_2090-296insCTTTCTGGTCCTTCATGGCCTCTGTAC...
XM_005259327.2:c.1820-297_1820-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC	XP_005259384.1:n.1820-297_1820-296insCTTTCTGGTCCTTCATGGCCTCTG...
XM_011527395.1:c.1847-297_1847-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC	XP_011525697.1:n.1847-297_1847-296insCTTTCTGGTCCTTCATGGCCTCTG...
XR_430213.2:n.2073-297_2073-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC
XM_005259327.3:c.1820-297_1820-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC	XP_005259384.1:n.1820-297_1820-296insCTTTCTGGTCCTTCATGGCCTCTG...
XM_011527395.2:c.1562-297_1562-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC	XP_011525697.2:n.1562-297_1562-296insCTTTCTGGTCCTTCATGGCCTCTG...
XM_024451739.1:c.1865-297_1865-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC	XP_024307507.1:n.1865-297_1865-296insCTTTCTGGTCCTTCATGGCCTCTG...
XR_430213.4:n.2371-297_2371-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC
NM_032430.2:c.2090-297_2090-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC MANE Select	NP_115806.1:n.2090-297_2090-296insCTTTCTGGTCCTTCATGGCCTCTGTAC...