Canonical Allele Identifier: CA997262759

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308321_55308322insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG , CM000681.2:g.55308321_55308322insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	GRCh38
NC_000019.9:g.55819689_55819690insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG , CM000681.1:g.55819689_55819690insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	GRCh37
NC_000019.8:g.60511501_60511502insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-318_2090-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG MANE Select	ENSP00000310649.1:n.2090-318_2090-317insACTACAACTTATTTTTCTTAC...
ENST00000309383.5:c.2090-318_2090-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	ENSP00000310649.1:n.2090-318_2090-317insACTACAACTTATTTTTCTTAC...
ENST00000326848.7:c.1175-318_1175-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	ENSP00000320853.7:n.1175-318_1175-317insACTACAACTTATTTTTCTTAC...
ENST00000590333.5:c.2138-318_2138-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	ENSP00000468190.1:n.2138-318_2138-317insACTACAACTTATTTTTCTTAC...
NM_032430.1:c.2090-318_2090-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	NP_115806.1:n.2090-318_2090-317insACTACAACTTATTTTTCTTACATTTCT...
XM_005259327.2:c.1820-318_1820-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	XP_005259384.1:n.1820-318_1820-317insACTACAACTTATTTTTCTTACATT...
XM_011527395.1:c.1847-318_1847-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	XP_011525697.1:n.1847-318_1847-317insACTACAACTTATTTTTCTTACATT...
XR_430213.2:n.2073-318_2073-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG
XM_005259327.3:c.1820-318_1820-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	XP_005259384.1:n.1820-318_1820-317insACTACAACTTATTTTTCTTACATT...
XM_011527395.2:c.1562-318_1562-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	XP_011525697.2:n.1562-318_1562-317insACTACAACTTATTTTTCTTACATT...
XM_024451739.1:c.1865-318_1865-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG	XP_024307507.1:n.1865-318_1865-317insACTACAACTTATTTTTCTTACATT...
XR_430213.4:n.2371-318_2371-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG
NM_032430.2:c.2090-318_2090-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG MANE Select	NP_115806.1:n.2090-318_2090-317insACTACAACTTATTTTTCTTACATTTCT...