Canonical Allele Identifier: CA681241762

Gene: HIKESHI

Linked Data

• dbSNP Id: rs1290116976
• gnomAD v3: 11-86306560-TC-T
• gnomAD v4: 11-86306560-TC-T
• MyVariant Identifiers: chr11:g.86017603del (hg19) ; chr11:g.86306561del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306565del , CM000673.2:g.86306565del	GRCh38
NC_000011.9:g.86017607del , CM000673.1:g.86017607del	GRCh37
NC_000011.8:g.85695255del	NCBI36
NG_046865.1:g.9355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278483.8:c.268+83del MANE Select	ENSP00000278483.3:n.268+83del
ENST00000278483.7:c.268+83del	ENSP00000278483.3:n.268+83del
ENST00000528004.5:c.268+83del	ENSP00000433815.1:n.268+83del
ENST00000530208.1:n.343+83del
ENST00000531485.5:n.236+4087del
ENST00000532270.5:n.607+83del
ENST00000533986.5:c.268+83del	ENSP00000432699.1:n.268+83del
ENST00000618164.1:c.70+83del	ENSP00000482151.1:n.70+83del
NM_016401.3:c.268+83del	NP_057485.2:n.268+83del
NR_024596.1:n.343+83del
NR_024597.1:n.268+4087del
NR_024598.1:n.268+4087del
XM_011545097.1:c.151+83del	XP_011543399.1:n.151+83del
XR_949963.1:n.491+83del
NM_001322404.1:c.268+83del	NP_001309333.1:n.268+83del
NM_001322407.1:c.151+83del	NP_001309336.1:n.151+83del
NM_001322409.1:c.151+83del	NP_001309338.1:n.151+83del
NR_136324.1:n.490+83del
XM_017017914.2:c.268+83del	XP_016873403.1:n.268+83del
XM_017017915.1:c.151+83del	XP_016873404.1:n.151+83del
XR_001747904.2:n.477+83del
XR_949963.3:n.477+83del
NM_016401.4:c.268+83del MANE Select	NP_057485.2:n.268+83del
NM_001322404.2:c.268+83del	NP_001309333.1:n.268+83del
NM_001322407.2:c.151+83del	NP_001309336.1:n.151+83del
NM_001322409.2:c.151+83del	NP_001309338.1:n.151+83del
NR_024597.2:n.239+4087del
NR_024598.2:n.239+4087del
NR_136324.2:n.477+83del