Canonical Allele Identifier: CA997262812

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308366-G-GTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC
• gnomAD v4: 19-55308366-G-GTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308366_55308367insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC , CM000681.2:g.55308366_55308367insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC	GRCh38
NC_000019.9:g.55819734_55819735insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC , CM000681.1:g.55819734_55819735insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC	GRCh37
NC_000019.8:g.60511546_60511547insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC MANE Select	ENSP00000310649.1:n.2090-273_2090-272insTACCTGGCTCCAACTTATTTT...
ENST00000309383.5:c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC	ENSP00000310649.1:n.2090-273_2090-272insTACCTGGCTCCAACTTATTTT...
ENST00000326848.7:c.1175-273_1175-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC	ENSP00000320853.7:n.1175-273_1175-272insTACCTGGCTCCAACTTATTTT...
ENST00000590333.5:c.2138-273_2138-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC	ENSP00000468190.1:n.2138-273_2138-272insTACCTGGCTCCAACTTATTTT...
NM_032430.1:c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC	NP_115806.1:n.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTAC...
XM_005259327.2:c.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC	XP_005259384.1:n.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCT...
XM_011527395.1:c.1847-273_1847-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC	XP_011525697.1:n.1847-273_1847-272insTACCTGGCTCCAACTTATTTTTCT...
XR_430213.2:n.2073-273_2073-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC
XM_005259327.3:c.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC	XP_005259384.1:n.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCT...
XM_011527395.2:c.1562-273_1562-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC	XP_011525697.2:n.1562-273_1562-272insTACCTGGCTCCAACTTATTTTTCT...
XM_024451739.1:c.1865-273_1865-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC	XP_024307507.1:n.1865-273_1865-272insTACCTGGCTCCAACTTATTTTTCT...
XR_430213.4:n.2371-273_2371-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC
NM_032430.2:c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC MANE Select	NP_115806.1:n.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTAC...