Canonical Allele Identifier: CA9672694

Gene: BRSK1

Linked Data

• dbSNP Id: rs762700507
• ExAC: 19:55820104 G / GC
• gnomAD v2: 19-55820104-G-GC
• gnomAD v3: 19-55308736-G-GC
• gnomAD v4: 19-55308736-G-GC
• MyVariant Identifiers: chr19:g.55820104_55820105insC (hg19) ; chr19:g.55308736_55308737insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308736_55308737insC , CM000681.2:g.55308736_55308737insC	GRCh38
NC_000019.9:g.55820104_55820105insC , CM000681.1:g.55820104_55820105insC	GRCh37
NC_000019.8:g.60511916_60511917insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+8_2179+9insC MANE Select	ENSP00000310649.1:n.2179+8_2179+9insC
ENST00000309383.5:c.2179+8_2179+9insC	ENSP00000310649.1:n.2179+8_2179+9insC
ENST00000326848.7:c.1264+8_1264+9insC	ENSP00000320853.7:n.1264+8_1264+9insC
ENST00000590333.5:c.2227+8_2227+9insC	ENSP00000468190.1:n.2227+8_2227+9insC
NM_032430.1:c.2179+8_2179+9insC	NP_115806.1:n.2179+8_2179+9insC
XM_005259327.2:c.1909+8_1909+9insC	XP_005259384.1:n.1909+8_1909+9insC
XM_011527395.1:c.1936+8_1936+9insC	XP_011525697.1:n.1936+8_1936+9insC
XR_430213.2:n.2162+8_2162+9insC
XM_005259327.3:c.1909+8_1909+9insC	XP_005259384.1:n.1909+8_1909+9insC
XM_011527395.2:c.1651+8_1651+9insC	XP_011525697.2:n.1651+8_1651+9insC
XM_024451739.1:c.1954+8_1954+9insC	XP_024307507.1:n.1954+8_1954+9insC
XR_430213.4:n.2460+8_2460+9insC
NM_032430.2:c.2179+8_2179+9insC MANE Select	NP_115806.1:n.2179+8_2179+9insC