Canonical Allele Identifier: CA997262748

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308324_55308325insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT , CM000681.2:g.55308324_55308325insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT	GRCh38
NC_000019.9:g.55819692_55819693insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT , CM000681.1:g.55819692_55819693insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT	GRCh37
NC_000019.8:g.60511504_60511505insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-315_2090-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT MANE Select	ENSP00000310649.1:n.2090-315_2090-314insTCAACTTATTTTTCTTACATT...
ENST00000309383.5:c.2090-315_2090-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT	ENSP00000310649.1:n.2090-315_2090-314insTCAACTTATTTTTCTTACATT...
ENST00000326848.7:c.1175-315_1175-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT	ENSP00000320853.7:n.1175-315_1175-314insTCAACTTATTTTTCTTACATT...
ENST00000590333.5:c.2138-315_2138-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT	ENSP00000468190.1:n.2138-315_2138-314insTCAACTTATTTTTCTTACATT...
NM_032430.1:c.2090-315_2090-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT	NP_115806.1:n.2090-315_2090-314insTCAACTTATTTTTCTTACATTTCTGGT...
XM_005259327.2:c.1820-315_1820-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT	XP_005259384.1:n.1820-315_1820-314insTCAACTTATTTTTCTTACATTTCT...
XM_011527395.1:c.1847-315_1847-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT	XP_011525697.1:n.1847-315_1847-314insTCAACTTATTTTTCTTACATTTCT...
XR_430213.2:n.2073-315_2073-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT
XM_005259327.3:c.1820-315_1820-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT	XP_005259384.1:n.1820-315_1820-314insTCAACTTATTTTTCTTACATTTCT...
XM_011527395.2:c.1562-315_1562-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT	XP_011525697.2:n.1562-315_1562-314insTCAACTTATTTTTCTTACATTTCT...
XM_024451739.1:c.1865-315_1865-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT	XP_024307507.1:n.1865-315_1865-314insTCAACTTATTTTTCTTACATTTCT...
XR_430213.4:n.2371-315_2371-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT
NM_032430.2:c.2090-315_2090-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT MANE Select	NP_115806.1:n.2090-315_2090-314insTCAACTTATTTTTCTTACATTTCTGGT...