Canonical Allele Identifier: CA2574943023

Gene: HIKESHI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306449del , CM000673.2:g.86306449del	GRCh38
NC_000011.9:g.86017491del , CM000673.1:g.86017491del	GRCh37
NC_000011.8:g.85695139del	NCBI36
NG_046865.1:g.9239del

Transcript Alleles

HGVS	Amino-acid change
ENST00000278483.8:c.235del MANE Select	ENSP00000278483.3:p.Ser79ValfsTer22
ENST00000278483.7:c.235del	ENSP00000278483.3:p.Ser79ValfsTer22
ENST00000528004.5:c.235del	ENSP00000433815.1:p.Ser79ValfsTer?
ENST00000530208.1:n.310del
ENST00000531485.5:n.236+3971del
ENST00000532270.5:n.574del
ENST00000533986.5:c.235del	ENSP00000432699.1:p.Ser79ValfsTer22
ENST00000618164.1:c.37del	ENSP00000482151.1:p.Ser13ValfsTer22
NM_016401.3:c.235del	NP_057485.2:p.Ser79ValfsTer22
NR_024596.1:n.310del
NR_024597.1:n.268+3971del
NR_024598.1:n.268+3971del
XM_011545097.1:c.118del	XP_011543399.1:p.Ser40ValfsTer22
XR_949963.1:n.458del
NM_001322404.1:c.235del	NP_001309333.1:p.Ser79ValfsTer22
NM_001322407.1:c.118del	NP_001309336.1:p.Ser40ValfsTer22
NM_001322409.1:c.118del	NP_001309338.1:p.Ser40ValfsTer22
NR_136324.1:n.457del
XM_017017914.2:c.235del	XP_016873403.1:p.Ser79ValfsTer22
XM_017017915.1:c.118del	XP_016873404.1:p.Ser40ValfsTer22
XR_001747904.2:n.444del
XR_949963.3:n.444del
NM_016401.4:c.235del MANE Select	NP_057485.2:p.Ser79ValfsTer22
NM_001322404.2:c.235del	NP_001309333.1:p.Ser79ValfsTer22
NM_001322407.2:c.118del	NP_001309336.1:p.Ser40ValfsTer22
NM_001322409.2:c.118del	NP_001309338.1:p.Ser40ValfsTer22
NR_024597.2:n.239+3971del
NR_024598.2:n.239+3971del
NR_136324.2:n.444del