Canonical Allele Identifier: CA997262689

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308040-A-ATTT
• gnomAD v4: 19-55308040-A-ATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308040_55308041insTTT , CM000681.2:g.55308040_55308041insTTT	GRCh38
NC_000019.9:g.55819408_55819409insTTT , CM000681.1:g.55819408_55819409insTTT	GRCh37
NC_000019.8:g.60511220_60511221insTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-599_2090-598insTTT MANE Select	ENSP00000310649.1:n.2090-599_2090-598insTTT
ENST00000309383.5:c.2090-599_2090-598insTTT	ENSP00000310649.1:n.2090-599_2090-598insTTT
ENST00000326848.7:c.1175-599_1175-598insTTT	ENSP00000320853.7:n.1175-599_1175-598insTTT
ENST00000590333.5:c.2138-599_2138-598insTTT	ENSP00000468190.1:n.2138-599_2138-598insTTT
NM_032430.1:c.2090-599_2090-598insTTT	NP_115806.1:n.2090-599_2090-598insTTT
XM_005259327.2:c.1820-599_1820-598insTTT	XP_005259384.1:n.1820-599_1820-598insTTT
XM_011527395.1:c.1847-599_1847-598insTTT	XP_011525697.1:n.1847-599_1847-598insTTT
XR_430213.2:n.2073-599_2073-598insTTT
XM_005259327.3:c.1820-599_1820-598insTTT	XP_005259384.1:n.1820-599_1820-598insTTT
XM_011527395.2:c.1562-599_1562-598insTTT	XP_011525697.2:n.1562-599_1562-598insTTT
XM_024451739.1:c.1865-599_1865-598insTTT	XP_024307507.1:n.1865-599_1865-598insTTT
XR_430213.4:n.2371-599_2371-598insTTT
NM_032430.2:c.2090-599_2090-598insTTT MANE Select	NP_115806.1:n.2090-599_2090-598insTTT