Canonical Allele Identifier: CA1053807

Gene: HJV

Linked Data

• ClinVar Variation Id: 1018758
• ClinVar RCV Id: RCV001318106 ; RCV001835587
• dbSNP Id: rs781860270
• ExAC: 1:145415573 GGGGCCCCGCCCTTCCAGGCGC / G
• gnomAD v2: 1-145415573-GGGGCCCCGCCCTTCCAGGCGC-G
• gnomAD v3: 1-146019414-AGCCCGCGCCTGGAAGGGCGGG-A
• gnomAD v4: 1-146019414-AGCCCGCGCCTGGAAGGGCGGG-A
• MyVariant Identifiers: chr1:g.145415574_145415594del (hg19) ; chr1:g.146019415_146019435del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019419_146019439del , CM000663.2:g.146019419_146019439del	GRCh38
NC_000001.10:g.145415578_145415598del , CM000663.1:g.145415578_145415598del	GRCh37
NC_000001.9:g.144126935_144126955del	NCBI36
NG_011568.1:g.7388_7408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.397_417del MANE Select	ENSP00000337014.5:p.Pro133_Gly139del
ENST00000636675.1:c.-22+263_-22+283del	ENSP00000490072.1:n.-22+263_-22+283del
ENST00000336751.10:c.397_417del	ENSP00000337014.5:p.Pro133_Gly139del
ENST00000357836.5:c.58_78del	ENSP00000350495.5:p.Pro20_Gly26del
ENST00000475797.1:c.-21-735_-21-715del	ENSP00000425716.1:n.-21-735_-21-715del
ENST00000497365.5:c.-22+263_-22+283del	ENSP00000421820.1:n.-22+263_-22+283del
ENST00000634927.1:c.134+263_134+283del	ENSP00000489347.1:n.134+263_134+283del
NM_001316767.1:c.-22+263_-22+283del	NP_001303696.1:n.-22+263_-22+283del
NM_145277.4:c.58_78del	NP_660320.3:p.Pro20_Gly26del
NM_202004.3:c.-22+263_-22+283del	NP_973733.1:n.-22+263_-22+283del
NM_213652.3:c.-21-735_-21-715del	NP_998817.1:n.-21-735_-21-715del
NM_213653.3:c.397_417del	NP_998818.1:p.Pro133_Gly139del
XM_005272932.1:c.397_417del	XP_005272989.1:p.Pro133_Gly139del
NM_001316767.2:c.-22+263_-22+283del	NP_001303696.1:n.-22+263_-22+283del
NM_145277.5:c.58_78del	NP_660320.3:p.Pro20_Gly26del
NM_202004.4:c.-22+263_-22+283del	NP_973733.1:n.-22+263_-22+283del
NM_213652.4:c.-21-735_-21-715del	NP_998817.1:n.-21-735_-21-715del
NM_001379352.1:c.397_417del	NP_001366281.1:p.Pro133_Gly139del
NM_213653.4:c.397_417del MANE Select	NP_998818.1:p.Pro133_Gly139del