Canonical Allele Identifier: CA997262731

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088695960
• gnomAD v3: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCT
• gnomAD v4: 19-55308312-C-CCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308359_55308360insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG , CM000681.2:g.55308359_55308360insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG	GRCh38
NC_000019.9:g.55819727_55819728insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG , CM000681.1:g.55819727_55819728insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG	GRCh37
NC_000019.8:g.60511539_60511540insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-280_2090-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG MANE Select	ENSP00000310649.1:n.2090-280_2090-279insACCTCTGTACCTGGCTCCAAC...
ENST00000309383.5:c.2090-280_2090-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG	ENSP00000310649.1:n.2090-280_2090-279insACCTCTGTACCTGGCTCCAAC...
ENST00000326848.7:c.1175-280_1175-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG	ENSP00000320853.7:n.1175-280_1175-279insACCTCTGTACCTGGCTCCAAC...
ENST00000590333.5:c.2138-280_2138-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG	ENSP00000468190.1:n.2138-280_2138-279insACCTCTGTACCTGGCTCCAAC...
NM_032430.1:c.2090-280_2090-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG	NP_115806.1:n.2090-280_2090-279insACCTCTGTACCTGGCTCCAACTTATTT...
XM_005259327.2:c.1820-280_1820-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG	XP_005259384.1:n.1820-280_1820-279insACCTCTGTACCTGGCTCCAACTTA...
XM_011527395.1:c.1847-280_1847-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG	XP_011525697.1:n.1847-280_1847-279insACCTCTGTACCTGGCTCCAACTTA...
XR_430213.2:n.2073-280_2073-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG
XM_005259327.3:c.1820-280_1820-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG	XP_005259384.1:n.1820-280_1820-279insACCTCTGTACCTGGCTCCAACTTA...
XM_011527395.2:c.1562-280_1562-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG	XP_011525697.2:n.1562-280_1562-279insACCTCTGTACCTGGCTCCAACTTA...
XM_024451739.1:c.1865-280_1865-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG	XP_024307507.1:n.1865-280_1865-279insACCTCTGTACCTGGCTCCAACTTA...
XR_430213.4:n.2371-280_2371-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG
NM_032430.2:c.2090-280_2090-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG MANE Select	NP_115806.1:n.2090-280_2090-279insACCTCTGTACCTGGCTCCAACTTATTT...