Canonical Allele Identifier: CA2576894934

Gene: BRSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308643del , CM000681.2:g.55308643del	GRCh38
NC_000019.9:g.55820011del , CM000681.1:g.55820011del	GRCh37
NC_000019.8:g.60511823del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2094del MANE Select	ENSP00000310649.1:p.Ser699AlafsTer16
ENST00000309383.5:c.2094del	ENSP00000310649.1:p.Ser699AlafsTer16
ENST00000326848.7:c.1179del	ENSP00000320853.7:p.Ser394AlafsTer16
ENST00000590333.5:c.2142del	ENSP00000468190.1:p.Ser715AlafsTer16
NM_032430.1:c.2094del	NP_115806.1:p.Ser699AlafsTer16
XM_005259327.2:c.1824del	XP_005259384.1:p.Ser609AlafsTer16
XM_011527395.1:c.1851del	XP_011525697.1:p.Ser618AlafsTer16
XR_430213.2:n.2077del
XM_005259327.3:c.1824del	XP_005259384.1:p.Ser609AlafsTer16
XM_011527395.2:c.1566del	XP_011525697.2:p.Ser523AlafsTer16
XM_024451739.1:c.1869del	XP_024307507.1:p.Ser624AlafsTer16
XR_430213.4:n.2375del
NM_032430.2:c.2094del MANE Select	NP_115806.1:p.Ser699AlafsTer16