Canonical Allele Identifier: CA2580610851

Gene: HJV

Linked Data

• ClinVar Variation Id: 3068589
• ClinVar RCV Id: RCV003994658

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019687_146019706del , CM000663.2:g.146019687_146019706del	GRCh38
NC_000001.10:g.145415308_145415327del , CM000663.1:g.145415308_145415327del	GRCh37
NC_000001.9:g.144126665_144126684del	NCBI36
NG_011568.1:g.7118_7137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.127_146del MANE Select	ENSP00000337014.5:p.Asn43HisfsTer5
ENST00000636675.1:c.-29_-22+12del
ENST00000336751.10:c.127_146del	ENSP00000337014.5:p.Asn43HisfsTer5
ENST00000357836.5:c.-213_-194del	ENSP00000350495.5:n.-213_-194del
ENST00000421822.2:c.127_146del	ENSP00000411863.2:p.Asn43HisfsTer5
ENST00000475797.1:c.-21-1005_-21-986del	ENSP00000425716.1:n.-21-1005_-21-986del
ENST00000497365.5:c.-29_-22+12del
ENST00000634927.1:c.127_134+12del
NM_001316767.1:c.-29_-22+12del
NM_145277.4:c.-213_-194del	NP_660320.3:n.-213_-194del
NM_202004.3:c.-29_-22+12del
NM_213652.3:c.-21-1005_-21-986del	NP_998817.1:n.-21-1005_-21-986del
NM_213653.3:c.127_146del	NP_998818.1:p.Asn43HisfsTer5
XM_005272932.1:c.127_146del	XP_005272989.1:p.Asn43HisfsTer5
NM_001316767.2:c.-29_-22+12del
NM_145277.5:c.-213_-194del	NP_660320.3:n.-213_-194del
NM_202004.4:c.-29_-22+12del
NM_213652.4:c.-21-1005_-21-986del	NP_998817.1:n.-21-1005_-21-986del
NM_001379352.1:c.127_146del	NP_001366281.1:p.Asn43HisfsTer5
NM_213653.4:c.127_146del MANE Select	NP_998818.1:p.Asn43HisfsTer5