Canonical Allele Identifier: CA633862368

Gene: BRSK1

Linked Data

• gnomAD v2: 19-55819735-C-CTCCAACTTATTTTTCT
• gnomAD v3: 19-55308367-C-CTCCAACTTATTTTTCT
• gnomAD v4: 19-55308367-C-CTCCAACTTATTTTTCT
• MyVariant Identifiers: chr19:g.55819735_55819736insTCCAACTTATTTTTCT (hg19) ; chr19:g.55308367_55308368insTCCAACTTATTTTTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308368_55308369insCCAACTTATTTTTCTT , CM000681.2:g.55308368_55308369insCCAACTTATTTTTCTT	GRCh38
NC_000019.9:g.55819736_55819737insCCAACTTATTTTTCTT , CM000681.1:g.55819736_55819737insCCAACTTATTTTTCTT	GRCh37
NC_000019.8:g.60511548_60511549insCCAACTTATTTTTCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-271_2090-270insCCAACTTATTTTTCTT MANE Select	ENSP00000310649.1:n.2090-271_2090-270insCCAACTTATTTTTCTT
ENST00000309383.5:c.2090-271_2090-270insCCAACTTATTTTTCTT	ENSP00000310649.1:n.2090-271_2090-270insCCAACTTATTTTTCTT
ENST00000326848.7:c.1175-271_1175-270insCCAACTTATTTTTCTT	ENSP00000320853.7:n.1175-271_1175-270insCCAACTTATTTTTCTT
ENST00000590333.5:c.2138-271_2138-270insCCAACTTATTTTTCTT	ENSP00000468190.1:n.2138-271_2138-270insCCAACTTATTTTTCTT
NM_032430.1:c.2090-271_2090-270insCCAACTTATTTTTCTT	NP_115806.1:n.2090-271_2090-270insCCAACTTATTTTTCTT
XM_005259327.2:c.1820-271_1820-270insCCAACTTATTTTTCTT	XP_005259384.1:n.1820-271_1820-270insCCAACTTATTTTTCTT
XM_011527395.1:c.1847-271_1847-270insCCAACTTATTTTTCTT	XP_011525697.1:n.1847-271_1847-270insCCAACTTATTTTTCTT
XR_430213.2:n.2073-271_2073-270insCCAACTTATTTTTCTT
XM_005259327.3:c.1820-271_1820-270insCCAACTTATTTTTCTT	XP_005259384.1:n.1820-271_1820-270insCCAACTTATTTTTCTT
XM_011527395.2:c.1562-271_1562-270insCCAACTTATTTTTCTT	XP_011525697.2:n.1562-271_1562-270insCCAACTTATTTTTCTT
XM_024451739.1:c.1865-271_1865-270insCCAACTTATTTTTCTT	XP_024307507.1:n.1865-271_1865-270insCCAACTTATTTTTCTT
XR_430213.4:n.2371-271_2371-270insCCAACTTATTTTTCTT
NM_032430.2:c.2090-271_2090-270insCCAACTTATTTTTCTT MANE Select	NP_115806.1:n.2090-271_2090-270insCCAACTTATTTTTCTT