Canonical Allele Identifier: CA997262762

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308325_55308326insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC , CM000681.2:g.55308325_55308326insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	GRCh38
NC_000019.9:g.55819693_55819694insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC , CM000681.1:g.55819693_55819694insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	GRCh37
NC_000019.8:g.60511505_60511506insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC	NCBI36

Transcript Alleles

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