Canonical Allele Identifier: CA883744103

Gene: BRSK1

Linked Data

• dbSNP Id: rs1321764175
• gnomAD v3: 19-55307966-AAAAAG-A
• gnomAD v4: 19-55307966-AAAAAG-A
• MyVariant Identifiers: chr19:g.55819335_55819339del (hg19) ; chr19:g.55307967_55307971del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55307973_55307977del , CM000681.2:g.55307973_55307977del	GRCh38
NC_000019.9:g.55819341_55819345del , CM000681.1:g.55819341_55819345del	GRCh37
NC_000019.8:g.60511153_60511157del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-666_2090-662del MANE Select	ENSP00000310649.1:n.2090-666_2090-662del
ENST00000309383.5:c.2090-666_2090-662del	ENSP00000310649.1:n.2090-666_2090-662del
ENST00000326848.7:c.1175-666_1175-662del	ENSP00000320853.7:n.1175-666_1175-662del
ENST00000590333.5:c.2138-666_2138-662del	ENSP00000468190.1:n.2138-666_2138-662del
NM_032430.1:c.2090-666_2090-662del	NP_115806.1:n.2090-666_2090-662del
XM_005259327.2:c.1820-666_1820-662del	XP_005259384.1:n.1820-666_1820-662del
XM_011527395.1:c.1847-666_1847-662del	XP_011525697.1:n.1847-666_1847-662del
XR_430213.2:n.2073-666_2073-662del
XM_005259327.3:c.1820-666_1820-662del	XP_005259384.1:n.1820-666_1820-662del
XM_011527395.2:c.1562-666_1562-662del	XP_011525697.2:n.1562-666_1562-662del
XM_024451739.1:c.1865-666_1865-662del	XP_024307507.1:n.1865-666_1865-662del
XR_430213.4:n.2371-666_2371-662del
NM_032430.2:c.2090-666_2090-662del MANE Select	NP_115806.1:n.2090-666_2090-662del