Canonical Allele Identifier: CA2582275965

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308326_55308327insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC , CM000681.2:g.55308326_55308327insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC	GRCh38
NC_000019.9:g.55819694_55819695insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC , CM000681.1:g.55819694_55819695insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC	GRCh37
NC_000019.8:g.60511506_60511507insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-313_2090-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC MANE Select	ENSP00000310649.1:n.2090-313_2090-312insTACTTATTTTTCTTACATTTC...
ENST00000309383.5:c.2090-313_2090-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC	ENSP00000310649.1:n.2090-313_2090-312insTACTTATTTTTCTTACATTTC...
ENST00000326848.7:c.1175-313_1175-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC	ENSP00000320853.7:n.1175-313_1175-312insTACTTATTTTTCTTACATTTC...
ENST00000590333.5:c.2138-313_2138-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC	ENSP00000468190.1:n.2138-313_2138-312insTACTTATTTTTCTTACATTTC...
NM_032430.1:c.2090-313_2090-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC	NP_115806.1:n.2090-313_2090-312insTACTTATTTTTCTTACATTTCTGGTCC...
XM_005259327.2:c.1820-313_1820-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC	XP_005259384.1:n.1820-313_1820-312insTACTTATTTTTCTTACATTTCTGG...
XM_011527395.1:c.1847-313_1847-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC	XP_011525697.1:n.1847-313_1847-312insTACTTATTTTTCTTACATTTCTGG...
XR_430213.2:n.2073-313_2073-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC
XM_005259327.3:c.1820-313_1820-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC	XP_005259384.1:n.1820-313_1820-312insTACTTATTTTTCTTACATTTCTGG...
XM_011527395.2:c.1562-313_1562-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC	XP_011525697.2:n.1562-313_1562-312insTACTTATTTTTCTTACATTTCTGG...
XM_024451739.1:c.1865-313_1865-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC	XP_024307507.1:n.1865-313_1865-312insTACTTATTTTTCTTACATTTCTGG...
XR_430213.4:n.2371-313_2371-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC
NM_032430.2:c.2090-313_2090-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC MANE Select	NP_115806.1:n.2090-313_2090-312insTACTTATTTTTCTTACATTTCTGGTCC...