Canonical Allele Identifier: CA342141580

Gene: HJV

Linked Data

• dbSNP Id: rs1553769720
• MyVariant Identifiers: chr1:g.145415582del (hg19) ; chr1:g.146019431del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019431del , CM000663.2:g.146019431del	GRCh38
NC_000001.10:g.145415584del , CM000663.1:g.145415584del	GRCh37
NC_000001.9:g.144126941del	NCBI36
NG_011568.1:g.7394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.403del MANE Select	ENSP00000337014.5:p.Leu135PhefsTer?
ENST00000636675.1:c.-22+269del	ENSP00000490072.1:n.-22+269del
ENST00000336751.10:c.403del	ENSP00000337014.5:p.Leu135PhefsTer?
ENST00000357836.5:c.64del	ENSP00000350495.5:p.Leu22PhefsTer?
ENST00000475797.1:c.-21-729del	ENSP00000425716.1:n.-21-729del
ENST00000497365.5:c.-22+269del	ENSP00000421820.1:n.-22+269del
ENST00000634927.1:c.134+269del	ENSP00000489347.1:n.134+269del
NM_001316767.1:c.-22+269del	NP_001303696.1:n.-22+269del
NM_145277.4:c.64del	NP_660320.3:p.Leu22PhefsTer?
NM_202004.3:c.-22+269del	NP_973733.1:n.-22+269del
NM_213652.3:c.-21-729del	NP_998817.1:n.-21-729del
NM_213653.3:c.403del	NP_998818.1:p.Leu135PhefsTer?
XM_005272932.1:c.403del	XP_005272989.1:p.Leu135PhefsTer?
NM_001316767.2:c.-22+269del	NP_001303696.1:n.-22+269del
NM_145277.5:c.64del	NP_660320.3:p.Leu22PhefsTer?
NM_202004.4:c.-22+269del	NP_973733.1:n.-22+269del
NM_213652.4:c.-21-729del	NP_998817.1:n.-21-729del
NM_001379352.1:c.403del	NP_001366281.1:p.Leu135PhefsTer?
NM_213653.4:c.403del MANE Select	NP_998818.1:p.Leu135PhefsTer?