Canonical Allele Identifier: CA997262780

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308338_55308339insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC , CM000681.2:g.55308338_55308339insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC	GRCh38
NC_000019.9:g.55819706_55819707insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC , CM000681.1:g.55819706_55819707insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC	GRCh37
NC_000019.8:g.60511518_60511519insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-301_2090-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC MANE Select	ENSP00000310649.1:n.2090-301_2090-300insCTACATTTCTGGTCCTTCATG...
ENST00000309383.5:c.2090-301_2090-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC	ENSP00000310649.1:n.2090-301_2090-300insCTACATTTCTGGTCCTTCATG...
ENST00000326848.7:c.1175-301_1175-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC	ENSP00000320853.7:n.1175-301_1175-300insCTACATTTCTGGTCCTTCATG...
ENST00000590333.5:c.2138-301_2138-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC	ENSP00000468190.1:n.2138-301_2138-300insCTACATTTCTGGTCCTTCATG...
NM_032430.1:c.2090-301_2090-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC	NP_115806.1:n.2090-301_2090-300insCTACATTTCTGGTCCTTCATGGCCTCT...
XM_005259327.2:c.1820-301_1820-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC	XP_005259384.1:n.1820-301_1820-300insCTACATTTCTGGTCCTTCATGGCC...
XM_011527395.1:c.1847-301_1847-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC	XP_011525697.1:n.1847-301_1847-300insCTACATTTCTGGTCCTTCATGGCC...
XR_430213.2:n.2073-301_2073-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC
XM_005259327.3:c.1820-301_1820-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC	XP_005259384.1:n.1820-301_1820-300insCTACATTTCTGGTCCTTCATGGCC...
XM_011527395.2:c.1562-301_1562-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC	XP_011525697.2:n.1562-301_1562-300insCTACATTTCTGGTCCTTCATGGCC...
XM_024451739.1:c.1865-301_1865-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC	XP_024307507.1:n.1865-301_1865-300insCTACATTTCTGGTCCTTCATGGCC...
XR_430213.4:n.2371-301_2371-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC
NM_032430.2:c.2090-301_2090-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC MANE Select	NP_115806.1:n.2090-301_2090-300insCTACATTTCTGGTCCTTCATGGCCTCT...