Canonical Allele Identifier: CA888578048

Gene: HJV

Linked Data

• dbSNP Id: rs1393301307
• gnomAD v3: 1-146017906-C-CCTT
• gnomAD v4: 1-146017906-C-CCTT
• MyVariant Identifiers: chr1:g.146017906_146017907insCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146017907_146017909dup , CM000663.2:g.146017907_146017909dup	GRCh38
NC_000001.10:g.145417104_145417106dup , CM000663.1:g.145417104_145417106dup	GRCh37
NC_000001.9:g.144128461_144128463dup	NCBI36
NG_011568.1:g.8914_8916dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.*168_*170dup MANE Select	ENSP00000337014.5:n.*168_*170dup
ENST00000636675.1:c.*168_*170dup	ENSP00000490072.1:n.*168_*170dup
ENST00000336751.10:c.*168_*170dup	ENSP00000337014.5:n.*168_*170dup
ENST00000357836.5:c.*168_*170dup	ENSP00000350495.5:n.*168_*170dup
ENST00000475797.1:c.*168_*170dup	ENSP00000425716.1:n.*168_*170dup
ENST00000497365.5:c.*168_*170dup	ENSP00000421820.1:n.*168_*170dup
NM_001316767.1:c.*168_*170dup	NP_001303696.1:n.*168_*170dup
NM_145277.4:c.*168_*170dup	NP_660320.3:n.*168_*170dup
NM_202004.3:c.*168_*170dup	NP_973733.1:n.*168_*170dup
NM_213652.3:c.*168_*170dup	NP_998817.1:n.*168_*170dup
NM_213653.3:c.*168_*170dup	NP_998818.1:n.*168_*170dup
XM_005272932.1:c.*168_*170dup	XP_005272989.1:n.*168_*170dup
NM_001316767.2:c.*168_*170dup	NP_001303696.1:n.*168_*170dup
NM_145277.5:c.*168_*170dup	NP_660320.3:n.*168_*170dup
NM_202004.4:c.*168_*170dup	NP_973733.1:n.*168_*170dup
NM_213652.4:c.*168_*170dup	NP_998817.1:n.*168_*170dup
NM_001379352.1:c.*168_*170dup	NP_001366281.1:n.*168_*170dup
NM_213653.4:c.*168_*170dup MANE Select	NP_998818.1:n.*168_*170dup