Canonical Allele Identifier: CA633862362

Gene: BRSK1

Linked Data

• gnomAD v2: 19-55819694-C-CAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCA
• gnomAD v3: 19-55308326-C-CAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCA
• gnomAD v4: 19-55308326-C-CAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCA
• MyVariant Identifiers: chr19:g.55819694_55819695insAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCA (hg19) ; chr19:g.55308326_55308327insAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308364_55308365insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC , CM000681.2:g.55308364_55308365insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC	GRCh38
NC_000019.9:g.55819732_55819733insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC , CM000681.1:g.55819732_55819733insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC	GRCh37
NC_000019.8:g.60511544_60511545insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC	NCBI36

Transcript Alleles

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