Canonical Allele Identifier: CA997262730

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308357_55308358insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA , CM000681.2:g.55308357_55308358insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA	GRCh38
NC_000019.9:g.55819725_55819726insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA , CM000681.1:g.55819725_55819726insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA	GRCh37
NC_000019.8:g.60511537_60511538insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-282_2090-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA MANE Select	ENSP00000310649.1:n.2090-282_2090-281insGGGCCTCTGTACCTGGCTCCA...
ENST00000309383.5:c.2090-282_2090-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA	ENSP00000310649.1:n.2090-282_2090-281insGGGCCTCTGTACCTGGCTCCA...
ENST00000326848.7:c.1175-282_1175-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA	ENSP00000320853.7:n.1175-282_1175-281insGGGCCTCTGTACCTGGCTCCA...
ENST00000590333.5:c.2138-282_2138-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA	ENSP00000468190.1:n.2138-282_2138-281insGGGCCTCTGTACCTGGCTCCA...
NM_032430.1:c.2090-282_2090-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA	NP_115806.1:n.2090-282_2090-281insGGGCCTCTGTACCTGGCTCCAACTTAT...
XM_005259327.2:c.1820-282_1820-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA	XP_005259384.1:n.1820-282_1820-281insGGGCCTCTGTACCTGGCTCCAACT...
XM_011527395.1:c.1847-282_1847-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA	XP_011525697.1:n.1847-282_1847-281insGGGCCTCTGTACCTGGCTCCAACT...
XR_430213.2:n.2073-282_2073-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA
XM_005259327.3:c.1820-282_1820-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA	XP_005259384.1:n.1820-282_1820-281insGGGCCTCTGTACCTGGCTCCAACT...
XM_011527395.2:c.1562-282_1562-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA	XP_011525697.2:n.1562-282_1562-281insGGGCCTCTGTACCTGGCTCCAACT...
XM_024451739.1:c.1865-282_1865-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA	XP_024307507.1:n.1865-282_1865-281insGGGCCTCTGTACCTGGCTCCAACT...
XR_430213.4:n.2371-282_2371-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA
NM_032430.2:c.2090-282_2090-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA MANE Select	NP_115806.1:n.2090-282_2090-281insGGGCCTCTGTACCTGGCTCCAACTTAT...