Canonical Allele Identifier: CA997262745

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308327_55308328insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA , CM000681.2:g.55308327_55308328insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	GRCh38
NC_000019.9:g.55819695_55819696insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA , CM000681.1:g.55819695_55819696insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	GRCh37
NC_000019.8:g.60511507_60511508insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-312_2090-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA MANE Select	ENSP00000310649.1:n.2090-312_2090-311insTCTTATTTTTCTTACATTTCT...
ENST00000309383.5:c.2090-312_2090-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	ENSP00000310649.1:n.2090-312_2090-311insTCTTATTTTTCTTACATTTCT...
ENST00000326848.7:c.1175-312_1175-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	ENSP00000320853.7:n.1175-312_1175-311insTCTTATTTTTCTTACATTTCT...
ENST00000590333.5:c.2138-312_2138-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	ENSP00000468190.1:n.2138-312_2138-311insTCTTATTTTTCTTACATTTCT...
NM_032430.1:c.2090-312_2090-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	NP_115806.1:n.2090-312_2090-311insTCTTATTTTTCTTACATTTCTGGTCCT...
XM_005259327.2:c.1820-312_1820-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	XP_005259384.1:n.1820-312_1820-311insTCTTATTTTTCTTACATTTCTGGT...
XM_011527395.1:c.1847-312_1847-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	XP_011525697.1:n.1847-312_1847-311insTCTTATTTTTCTTACATTTCTGGT...
XR_430213.2:n.2073-312_2073-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA
XM_005259327.3:c.1820-312_1820-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	XP_005259384.1:n.1820-312_1820-311insTCTTATTTTTCTTACATTTCTGGT...
XM_011527395.2:c.1562-312_1562-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	XP_011525697.2:n.1562-312_1562-311insTCTTATTTTTCTTACATTTCTGGT...
XM_024451739.1:c.1865-312_1865-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA	XP_024307507.1:n.1865-312_1865-311insTCTTATTTTTCTTACATTTCTGGT...
XR_430213.4:n.2371-312_2371-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA
NM_032430.2:c.2090-312_2090-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA MANE Select	NP_115806.1:n.2090-312_2090-311insTCTTATTTTTCTTACATTTCTGGTCCT...