Canonical Allele Identifier: CA29823652

Gene: HJV

Linked Data

• MyVariant Identifiers: chr1:g.146018403_146018404insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018403_146018404insG , CM000663.2:g.146018403_146018404insG	GRCh38
NC_000001.10:g.145416609_145416610insC , CM000663.1:g.145416609_145416610insC	GRCh37
NC_000001.9:g.144127966_144127967insC	NCBI36
NG_011568.1:g.8419_8420insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.954_955insC MANE Select	ENSP00000337014.5:p.Gly319ArgfsTer23
ENST00000636675.1:c.276_277insC	ENSP00000490072.1:p.Gly93ArgfsTer23
ENST00000336751.10:c.954_955insC	ENSP00000337014.5:p.Gly319ArgfsTer23
ENST00000357836.5:c.615_616insC	ENSP00000350495.5:p.Gly206ArgfsTer23
ENST00000475797.1:c.276_277insC	ENSP00000425716.1:p.Gly93ArgfsTer23
ENST00000497365.5:c.276_277insC	ENSP00000421820.1:p.Gly93ArgfsTer23
NM_001316767.1:c.276_277insC	NP_001303696.1:p.Gly93ArgfsTer23
NM_145277.4:c.615_616insC	NP_660320.3:p.Gly206ArgfsTer23
NM_202004.3:c.276_277insC	NP_973733.1:p.Gly93ArgfsTer23
NM_213652.3:c.276_277insC	NP_998817.1:p.Gly93ArgfsTer23
NM_213653.3:c.954_955insC	NP_998818.1:p.Gly319ArgfsTer23
XM_005272932.1:c.954_955insC	XP_005272989.1:p.Gly319ArgfsTer23
NM_001316767.2:c.276_277insC	NP_001303696.1:p.Gly93ArgfsTer23
NM_145277.5:c.615_616insC	NP_660320.3:p.Gly206ArgfsTer23
NM_202004.4:c.276_277insC	NP_973733.1:p.Gly93ArgfsTer23
NM_213652.4:c.276_277insC	NP_998817.1:p.Gly93ArgfsTer23
NM_001379352.1:c.954_955insC	NP_001366281.1:p.Gly319ArgfsTer23
NM_213653.4:c.954_955insC MANE Select	NP_998818.1:p.Gly319ArgfsTer23