Canonical Allele Identifier: CA526254008
Gene: HJV HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.146019387del
GRCh37 chr1:g.145415626del
gnomAD v2:
1:145415625 TG / T
gnomAD v4:
chr1-146019386-TC-T
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar Allele:
1318616
ClinVar RCV:
RCV001794943
RCV002034649
ClinVar Variation:
1327997
dbSNP:
1553769690
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019387del , CM000663.2:g.146019387del GRCh38
NC_000001.10:g.145415626del , CM000663.1:g.145415626del GRCh37
NC_000001.9:g.144126983del NCBI36
NG_011568.1:g.7436del

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.445del MANE Select ENSP00000337014.5:p.Asp149ThrfsTer?
ENST00000636675.1:c.-22+311del ENSP00000490072.1:n.-22+311del
ENST00000336751.10:c.445del ENSP00000337014.5:p.Asp149ThrfsTer?
ENST00000357836.5:c.106del ENSP00000350495.5:p.Asp36ThrfsTer?
ENST00000475797.1:c.-21-687del ENSP00000425716.1:n.-21-687del
ENST00000497365.5:c.-22+311del ENSP00000421820.1:n.-22+311del
ENST00000634927.1:c.134+311del ENSP00000489347.1:n.134+311del
NM_001316767.1:c.-22+311del NP_001303696.1:n.-22+311del
NM_145277.4:c.106del NP_660320.3:p.Asp36ThrfsTer?
NM_202004.3:c.-22+311del NP_973733.1:n.-22+311del
NM_213652.3:c.-21-687del NP_998817.1:n.-21-687del
NM_213653.3:c.445del NP_998818.1:p.Asp149ThrfsTer?
XM_005272932.1:c.445del XP_005272989.1:p.Asp149ThrfsTer?
NM_001316767.2:c.-22+311del NP_001303696.1:n.-22+311del
NM_145277.5:c.106del NP_660320.3:p.Asp36ThrfsTer?
NM_202004.4:c.-22+311del NP_973733.1:n.-22+311del
NM_213652.4:c.-21-687del NP_998817.1:n.-21-687del
NM_001379352.1:c.445del NP_001366281.1:p.Asp149ThrfsTer?
NM_213653.4:c.445del MANE Select NP_998818.1:p.Asp149ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'