Canonical Allele Identifier: CA525930534

Gene: HJV

Linked Data

• dbSNP Id: rs1472262356
• gnomAD v2: 1-145414997-C-CCTG
• gnomAD v3: 1-146020010-G-GAGC
• gnomAD v4: 1-146020010-G-GAGC
• MyVariant Identifiers: chr1:g.145414997_145414998insCTG (hg19) ; chr1:g.146020010_146020011insAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146020013_146020015dup , CM000663.2:g.146020013_146020015dup	GRCh38
NC_000001.10:g.145415000_145415002dup , CM000663.1:g.145415000_145415002dup	GRCh37
NC_000001.9:g.144126357_144126359dup	NCBI36
NG_011568.1:g.6810_6812dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.97+122_97+124dup MANE Select	ENSP00000337014.5:n.97+122_97+124dup
ENST00000636675.1:c.-58-279_-58-277dup	ENSP00000490072.1:n.-58-279_-58-277dup
ENST00000336751.10:c.97+122_97+124dup	ENSP00000337014.5:n.97+122_97+124dup
ENST00000357836.5:c.-242-279_-242-277dup	ENSP00000350495.5:n.-242-279_-242-277dup
ENST00000421822.2:c.97+122_97+124dup	ENSP00000411863.2:n.97+122_97+124dup
ENST00000475797.1:c.-21-1313_-21-1311dup	ENSP00000425716.1:n.-21-1313_-21-1311dup
ENST00000497365.5:c.-58-279_-58-277dup	ENSP00000421820.1:n.-58-279_-58-277dup
ENST00000634927.1:c.97+122_97+124dup	ENSP00000489347.1:n.97+122_97+124dup
NM_001316767.1:c.-59+122_-59+124dup	NP_001303696.1:n.-59+122_-59+124dup
NM_145277.4:c.-242-279_-242-277dup	NP_660320.3:n.-242-279_-242-277dup
NM_202004.3:c.-58-279_-58-277dup	NP_973733.1:n.-58-279_-58-277dup
NM_213652.3:c.-21-1313_-21-1311dup	NP_998817.1:n.-21-1313_-21-1311dup
NM_213653.3:c.97+122_97+124dup	NP_998818.1:n.97+122_97+124dup
XM_005272932.1:c.97+122_97+124dup	XP_005272989.1:n.97+122_97+124dup
NM_001316767.2:c.-59+122_-59+124dup	NP_001303696.1:n.-59+122_-59+124dup
NM_145277.5:c.-242-279_-242-277dup	NP_660320.3:n.-242-279_-242-277dup
NM_202004.4:c.-58-279_-58-277dup	NP_973733.1:n.-58-279_-58-277dup
NM_213652.4:c.-21-1313_-21-1311dup	NP_998817.1:n.-21-1313_-21-1311dup
NM_001379352.1:c.97+122_97+124dup	NP_001366281.1:n.97+122_97+124dup
NM_213653.4:c.97+122_97+124dup MANE Select	NP_998818.1:n.97+122_97+124dup