Canonical Allele Identifier: CA915940565

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018140_146018143del , CM000663.2:g.146018140_146018143del	GRCh38
NC_000001.10:g.145416871_145416874del , CM000663.1:g.145416871_145416874del	GRCh37
NC_000001.9:g.144128228_144128231del	NCBI36
NG_011568.1:g.8681_8684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.1216_1219del MANE Select	ENSP00000337014.5:p.Ser406GlnfsTer5
ENST00000636675.1:c.538_541del	ENSP00000490072.1:p.Ser180GlnfsTer5
ENST00000336751.10:c.1216_1219del	ENSP00000337014.5:p.Ser406GlnfsTer5
ENST00000357836.5:c.877_880del	ENSP00000350495.5:p.Ser293GlnfsTer5
ENST00000475797.1:c.538_541del	ENSP00000425716.1:p.Ser180GlnfsTer5
ENST00000497365.5:c.538_541del	ENSP00000421820.1:p.Ser180GlnfsTer5
NM_001316767.1:c.538_541del	NP_001303696.1:p.Ser180GlnfsTer5
NM_145277.4:c.877_880del	NP_660320.3:p.Ser293GlnfsTer5
NM_202004.3:c.538_541del	NP_973733.1:p.Ser180GlnfsTer5
NM_213652.3:c.538_541del	NP_998817.1:p.Ser180GlnfsTer5
NM_213653.3:c.1216_1219del	NP_998818.1:p.Ser406GlnfsTer5
XM_005272932.1:c.1216_1219del	XP_005272989.1:p.Ser406GlnfsTer5
NM_001316767.2:c.538_541del	NP_001303696.1:p.Ser180GlnfsTer5
NM_145277.5:c.877_880del	NP_660320.3:p.Ser293GlnfsTer5
NM_202004.4:c.538_541del	NP_973733.1:p.Ser180GlnfsTer5
NM_213652.4:c.538_541del	NP_998817.1:p.Ser180GlnfsTer5
NM_001379352.1:c.1216_1219del	NP_001366281.1:p.Ser406GlnfsTer5
NM_213653.4:c.1216_1219del MANE Select	NP_998818.1:p.Ser406GlnfsTer5