Canonical Allele Identifier: CA997262799

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308360-G-GCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGT
• gnomAD v4: 19-55308360-G-GCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC , CM000681.2:g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC	GRCh38
NC_000019.9:g.55819732_55819733insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC , CM000681.1:g.55819732_55819733insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC	GRCh37
NC_000019.8:g.60511544_60511545insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC MANE Select	ENSP00000310649.1:n.2090-275_2090-274insTGTACCTGGCTCCAACTTATT...
ENST00000309383.5:c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC	ENSP00000310649.1:n.2090-275_2090-274insTGTACCTGGCTCCAACTTATT...
ENST00000326848.7:c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC	ENSP00000320853.7:n.1175-275_1175-274insTGTACCTGGCTCCAACTTATT...
ENST00000590333.5:c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC	ENSP00000468190.1:n.2138-275_2138-274insTGTACCTGGCTCCAACTTATT...
NM_032430.1:c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC	NP_115806.1:n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTT...
XM_005259327.2:c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC	XP_005259384.1:n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTT...
XM_011527395.1:c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC	XP_011525697.1:n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTT...
XR_430213.2:n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC
XM_005259327.3:c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC	XP_005259384.1:n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTT...
XM_011527395.2:c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC	XP_011525697.2:n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTT...
XM_024451739.1:c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC	XP_024307507.1:n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTT...
XR_430213.4:n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC
NM_032430.2:c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC MANE Select	NP_115806.1:n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTT...