Canonical Allele Identifier: CA997262755

Gene: BRSK1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308312_55308313insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT , CM000681.2:g.55308312_55308313insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT	GRCh38
NC_000019.9:g.55819680_55819681insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT , CM000681.1:g.55819680_55819681insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT	GRCh37
NC_000019.8:g.60511492_60511493insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-327_2090-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT MANE Select	ENSP00000310649.1:n.2090-327_2090-326insATGTACCTGGCTCCAACTTAT...
ENST00000309383.5:c.2090-327_2090-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT	ENSP00000310649.1:n.2090-327_2090-326insATGTACCTGGCTCCAACTTAT...
ENST00000326848.7:c.1175-327_1175-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT	ENSP00000320853.7:n.1175-327_1175-326insATGTACCTGGCTCCAACTTAT...
ENST00000590333.5:c.2138-327_2138-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT	ENSP00000468190.1:n.2138-327_2138-326insATGTACCTGGCTCCAACTTAT...
NM_032430.1:c.2090-327_2090-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT	NP_115806.1:n.2090-327_2090-326insATGTACCTGGCTCCAACTTATTTTTCT...
XM_005259327.2:c.1820-327_1820-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT	XP_005259384.1:n.1820-327_1820-326insATGTACCTGGCTCCAACTTATTTT...
XM_011527395.1:c.1847-327_1847-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT	XP_011525697.1:n.1847-327_1847-326insATGTACCTGGCTCCAACTTATTTT...
XR_430213.2:n.2073-327_2073-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT
XM_005259327.3:c.1820-327_1820-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT	XP_005259384.1:n.1820-327_1820-326insATGTACCTGGCTCCAACTTATTTT...
XM_011527395.2:c.1562-327_1562-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT	XP_011525697.2:n.1562-327_1562-326insATGTACCTGGCTCCAACTTATTTT...
XM_024451739.1:c.1865-327_1865-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT	XP_024307507.1:n.1865-327_1865-326insATGTACCTGGCTCCAACTTATTTT...
XR_430213.4:n.2371-327_2371-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT
NM_032430.2:c.2090-327_2090-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT MANE Select	NP_115806.1:n.2090-327_2090-326insATGTACCTGGCTCCAACTTATTTTTCT...