Canonical Allele Identifier: CA1198821455

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019625_146019631delinsGCCTCCT , CM000663.2:g.146019625_146019631delinsGCCTCCT	GRCh38
NC_000001.10:g.145415382_145415388delinsAGGAGGC , CM000663.1:g.145415382_145415388delinsAGGAGGC	GRCh37
NC_000001.9:g.144126739_144126745delinsAGGAGGC	NCBI36
NG_011568.1:g.7192_7198delinsAGGAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.201_207delinsAGGAGGC MANE Select	ENSP00000337014.5:p.Gly67=
ENST00000636675.1:c.-22+67_-22+73delinsAGGAGGC	ENSP00000490072.1:n.-22+67_-22+73delinsAGGAGGC
ENST00000336751.10:c.201_207delinsAGGAGGC	ENSP00000337014.5:p.Gly67=
ENST00000357836.5:c.-139_-133delinsAGGAGGC	ENSP00000350495.5:n.-139_-133delinsAGGAGGC
ENST00000421822.2:c.201_207delinsAGGAGGC	ENSP00000411863.2:p.Gly67=
ENST00000475797.1:c.-21-931_-21-925delinsAGGAGGC	ENSP00000425716.1:n.-21-931_-21-925delinsAGGAGGC
ENST00000497365.5:c.-22+67_-22+73delinsAGGAGGC	ENSP00000421820.1:n.-22+67_-22+73delinsAGGAGGC
ENST00000634927.1:c.134+67_134+73delinsAGGAGGC	ENSP00000489347.1:n.134+67_134+73delinsAGGAGGC
NM_001316767.1:c.-22+67_-22+73delinsAGGAGGC	NP_001303696.1:n.-22+67_-22+73delinsAGGAGGC
NM_145277.4:c.-139_-133delinsAGGAGGC	NP_660320.3:n.-139_-133delinsAGGAGGC
NM_202004.3:c.-22+67_-22+73delinsAGGAGGC	NP_973733.1:n.-22+67_-22+73delinsAGGAGGC
NM_213652.3:c.-21-931_-21-925delinsAGGAGGC	NP_998817.1:n.-21-931_-21-925delinsAGGAGGC
NM_213653.3:c.201_207delinsAGGAGGC	NP_998818.1:p.Gly67=
XM_005272932.1:c.201_207delinsAGGAGGC	XP_005272989.1:p.Gly67=
NM_001316767.2:c.-22+67_-22+73delinsAGGAGGC	NP_001303696.1:n.-22+67_-22+73delinsAGGAGGC
NM_145277.5:c.-139_-133delinsAGGAGGC	NP_660320.3:n.-139_-133delinsAGGAGGC
NM_202004.4:c.-22+67_-22+73delinsAGGAGGC	NP_973733.1:n.-22+67_-22+73delinsAGGAGGC
NM_213652.4:c.-21-931_-21-925delinsAGGAGGC	NP_998817.1:n.-21-931_-21-925delinsAGGAGGC
NM_001379352.1:c.201_207delinsAGGAGGC	NP_001366281.1:p.Gly67=
NM_213653.4:c.201_207delinsAGGAGGC MANE Select	NP_998818.1:p.Gly67=