Canonical Allele Identifier: CA997262747

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308325_55308326insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC , CM000681.2:g.55308325_55308326insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	GRCh38
NC_000019.9:g.55819693_55819694insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC , CM000681.1:g.55819693_55819694insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	GRCh37
NC_000019.8:g.60511505_60511506insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-314_2090-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC MANE Select	ENSP00000310649.1:n.2090-314_2090-313insGAACTTATTTTTCTTACATTT...
ENST00000309383.5:c.2090-314_2090-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	ENSP00000310649.1:n.2090-314_2090-313insGAACTTATTTTTCTTACATTT...
ENST00000326848.7:c.1175-314_1175-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	ENSP00000320853.7:n.1175-314_1175-313insGAACTTATTTTTCTTACATTT...
ENST00000590333.5:c.2138-314_2138-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	ENSP00000468190.1:n.2138-314_2138-313insGAACTTATTTTTCTTACATTT...
NM_032430.1:c.2090-314_2090-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	NP_115806.1:n.2090-314_2090-313insGAACTTATTTTTCTTACATTTCTGGTC...
XM_005259327.2:c.1820-314_1820-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	XP_005259384.1:n.1820-314_1820-313insGAACTTATTTTTCTTACATTTCTG...
XM_011527395.1:c.1847-314_1847-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	XP_011525697.1:n.1847-314_1847-313insGAACTTATTTTTCTTACATTTCTG...
XR_430213.2:n.2073-314_2073-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC
XM_005259327.3:c.1820-314_1820-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	XP_005259384.1:n.1820-314_1820-313insGAACTTATTTTTCTTACATTTCTG...
XM_011527395.2:c.1562-314_1562-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	XP_011525697.2:n.1562-314_1562-313insGAACTTATTTTTCTTACATTTCTG...
XM_024451739.1:c.1865-314_1865-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	XP_024307507.1:n.1865-314_1865-313insGAACTTATTTTTCTTACATTTCTG...
XR_430213.4:n.2371-314_2371-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC
NM_032430.2:c.2090-314_2090-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC MANE Select	NP_115806.1:n.2090-314_2090-313insGAACTTATTTTTCTTACATTTCTGGTC...