Canonical Allele Identifier: CA29825412

Gene: HJV

Linked Data

• MyVariant Identifiers: chr1:g.146019644_146019645insGAGGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019646_146019647insGGAGGA , CM000663.2:g.146019646_146019647insGGAGGA	GRCh38
NC_000001.10:g.145415368_145415369insCTCCTC , CM000663.1:g.145415368_145415369insCTCCTC	GRCh37
NC_000001.9:g.144126725_144126726insCTCCTC	NCBI36
NG_011568.1:g.7178_7179insCTCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.187_188insCTCCTC MANE Select	ENSP00000337014.5:p.Leu62_Arg63insProPro
ENST00000636675.1:c.-22+53_-22+54insCTCCTC	ENSP00000490072.1:n.-22+53_-22+54insCTCCTC
ENST00000336751.10:c.187_188insCTCCTC	ENSP00000337014.5:p.Leu62_Arg63insProPro
ENST00000357836.5:c.-153_-152insCTCCTC	ENSP00000350495.5:n.-153_-152insCTCCTC
ENST00000421822.2:c.187_188insCTCCTC	ENSP00000411863.2:p.Leu62_Arg63insProPro
ENST00000475797.1:c.-21-945_-21-944insCTCCTC	ENSP00000425716.1:n.-21-945_-21-944insCTCCTC
ENST00000497365.5:c.-22+53_-22+54insCTCCTC	ENSP00000421820.1:n.-22+53_-22+54insCTCCTC
ENST00000634927.1:c.134+53_134+54insCTCCTC	ENSP00000489347.1:n.134+53_134+54insCTCCTC
NM_001316767.1:c.-22+53_-22+54insCTCCTC	NP_001303696.1:n.-22+53_-22+54insCTCCTC
NM_145277.4:c.-153_-152insCTCCTC	NP_660320.3:n.-153_-152insCTCCTC
NM_202004.3:c.-22+53_-22+54insCTCCTC	NP_973733.1:n.-22+53_-22+54insCTCCTC
NM_213652.3:c.-21-945_-21-944insCTCCTC	NP_998817.1:n.-21-945_-21-944insCTCCTC
NM_213653.3:c.187_188insCTCCTC	NP_998818.1:p.Leu62_Arg63insProPro
XM_005272932.1:c.187_188insCTCCTC	XP_005272989.1:p.Leu62_Arg63insProPro
NM_001316767.2:c.-22+53_-22+54insCTCCTC	NP_001303696.1:n.-22+53_-22+54insCTCCTC
NM_145277.5:c.-153_-152insCTCCTC	NP_660320.3:n.-153_-152insCTCCTC
NM_202004.4:c.-22+53_-22+54insCTCCTC	NP_973733.1:n.-22+53_-22+54insCTCCTC
NM_213652.4:c.-21-945_-21-944insCTCCTC	NP_998817.1:n.-21-945_-21-944insCTCCTC
NM_001379352.1:c.187_188insCTCCTC	NP_001366281.1:p.Leu62_Arg63insProPro
NM_213653.4:c.187_188insCTCCTC MANE Select	NP_998818.1:p.Leu62_Arg63insProPro