Canonical Allele Identifier: CA16040895
Gene: HGD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370654
ClinVar RCV Id: RCV000412288
dbSNP Id: rs1057516662

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120652593_120652598del , CM000665.2:g.120652593_120652598del GRCh38
NC_000003.11:g.120371440_120371445del , CM000665.1:g.120371440_120371445del GRCh37
NC_000003.10:g.121854130_121854135del NCBI36
NG_011957.1:g.34887_34892del

Transcript Alleles

HGVS Amino-acid change
NM_000187.3:c.339_342+2del VV
XM_005247412.1:c.339_342+2del
XM_005247413.1:c.339_342+2del
XM_005247414.3:c.339_342+2del
XM_011512746.1:c.339_342+2del
XM_005247412.2:c.339_342+2del
XM_005247413.2:c.339_342+2del
XM_005247414.5:c.339_342+2del
XM_011512746.2:c.339_342+2del
XM_017006277.2:c.-85_-82+2del
NM_000187.4:c.339_342+2del VV MANE Preferred
ENST00000283871.9:c.339_342+2del
ENST00000476082.2:c.216_219+2del
ENST00000485313.5:n.447_450+2del