Canonical Allele Identifier: CA997262732

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308356_55308357insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC , CM000681.2:g.55308356_55308357insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC	GRCh38
NC_000019.9:g.55819724_55819725insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC , CM000681.1:g.55819724_55819725insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC	GRCh37
NC_000019.8:g.60511536_60511537insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-283_2090-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC MANE Select	ENSP00000310649.1:n.2090-283_2090-282insCTGGCCTCTGTACCTGGCTCC...
ENST00000309383.5:c.2090-283_2090-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC	ENSP00000310649.1:n.2090-283_2090-282insCTGGCCTCTGTACCTGGCTCC...
ENST00000326848.7:c.1175-283_1175-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC	ENSP00000320853.7:n.1175-283_1175-282insCTGGCCTCTGTACCTGGCTCC...
ENST00000590333.5:c.2138-283_2138-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC	ENSP00000468190.1:n.2138-283_2138-282insCTGGCCTCTGTACCTGGCTCC...
NM_032430.1:c.2090-283_2090-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC	NP_115806.1:n.2090-283_2090-282insCTGGCCTCTGTACCTGGCTCCAACTTA...
XM_005259327.2:c.1820-283_1820-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC	XP_005259384.1:n.1820-283_1820-282insCTGGCCTCTGTACCTGGCTCCAAC...
XM_011527395.1:c.1847-283_1847-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC	XP_011525697.1:n.1847-283_1847-282insCTGGCCTCTGTACCTGGCTCCAAC...
XR_430213.2:n.2073-283_2073-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC
XM_005259327.3:c.1820-283_1820-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC	XP_005259384.1:n.1820-283_1820-282insCTGGCCTCTGTACCTGGCTCCAAC...
XM_011527395.2:c.1562-283_1562-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC	XP_011525697.2:n.1562-283_1562-282insCTGGCCTCTGTACCTGGCTCCAAC...
XM_024451739.1:c.1865-283_1865-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC	XP_024307507.1:n.1865-283_1865-282insCTGGCCTCTGTACCTGGCTCCAAC...
XR_430213.4:n.2371-283_2371-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC
NM_032430.2:c.2090-283_2090-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC MANE Select	NP_115806.1:n.2090-283_2090-282insCTGGCCTCTGTACCTGGCTCCAACTTA...