Canonical Allele Identifier: CA2745933951

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019207_146019208insACCCAACA , CM000663.2:g.146019207_146019208insACCCAACA	GRCh38
NC_000001.10:g.145415805_145415806insTGTTGGGT , CM000663.1:g.145415805_145415806insTGTTGGGT	GRCh37
NC_000001.9:g.144127162_144127163insTGTTGGGT	NCBI36
NG_011568.1:g.7615_7616insTGTTGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.624_625insTGTTGGGT MANE Select	ENSP00000337014.5:p.Ala209CysfsTer?
ENST00000636675.1:c.-22+490_-22+491insTGTTGGGT	ENSP00000490072.1:n.-22+490_-22+491insTGTTGGGT
ENST00000336751.10:c.624_625insTGTTGGGT	ENSP00000337014.5:p.Ala209CysfsTer?
ENST00000357836.5:c.285_286insTGTTGGGT	ENSP00000350495.5:p.Ala96CysfsTer?
ENST00000475797.1:c.-21-508_-21-507insTGTTGGGT	ENSP00000425716.1:n.-21-508_-21-507insTGTTGGGT
ENST00000497365.5:c.-22+490_-22+491insTGTTGGGT	ENSP00000421820.1:n.-22+490_-22+491insTGTTGGGT
ENST00000634927.1:c.134+490_134+491insTGTTGGGT	ENSP00000489347.1:n.134+490_134+491insTGTTGGGT
NM_001316767.1:c.-22+490_-22+491insTGTTGGGT	NP_001303696.1:n.-22+490_-22+491insTGTTGGGT
NM_145277.4:c.285_286insTGTTGGGT	NP_660320.3:p.Ala96CysfsTer?
NM_202004.3:c.-22+490_-22+491insTGTTGGGT	NP_973733.1:n.-22+490_-22+491insTGTTGGGT
NM_213652.3:c.-21-508_-21-507insTGTTGGGT	NP_998817.1:n.-21-508_-21-507insTGTTGGGT
NM_213653.3:c.624_625insTGTTGGGT	NP_998818.1:p.Ala209CysfsTer?
XM_005272932.1:c.624_625insTGTTGGGT	XP_005272989.1:p.Ala209CysfsTer?
NM_001316767.2:c.-22+490_-22+491insTGTTGGGT	NP_001303696.1:n.-22+490_-22+491insTGTTGGGT
NM_145277.5:c.285_286insTGTTGGGT	NP_660320.3:p.Ala96CysfsTer?
NM_202004.4:c.-22+490_-22+491insTGTTGGGT	NP_973733.1:n.-22+490_-22+491insTGTTGGGT
NM_213652.4:c.-21-508_-21-507insTGTTGGGT	NP_998817.1:n.-21-508_-21-507insTGTTGGGT
NM_001379352.1:c.624_625insTGTTGGGT	NP_001366281.1:p.Ala209CysfsTer?
NM_213653.4:c.624_625insTGTTGGGT MANE Select	NP_998818.1:p.Ala209CysfsTer?