Canonical Allele Identifier: CA10626060
Gene: IYD HGNC NCBI

Linked Data

ClinVar Variation Id: 355700
ClinVar RCV Id: RCV000326329
dbSNP Id: rs374913437

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398909_150398910delinsTG , CM000668.2:g.150398909_150398910delinsTG GRCh38
NC_000006.11:g.150720045_150720046delinsTG , CM000668.1:g.150720045_150720046delinsTG GRCh37
NC_000006.10:g.150761738_150761739delinsTG NCBI36
NG_016007.1:g.35018_35019delinsTG
NG_016007.2:g.35018_35019delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*672_*673delinsTG MANE Select ENSP00000343763.4:n.*672_*673delinsTG
ENST00000229447.9:c.*772_*773delinsTG ENSP00000229447.5:n.*772_*773delinsTG
ENST00000344419.7:c.*672_*673delinsTG ENSP00000343763.3:n.*672_*673delinsTG
NM_001164694.1:c.*772_*773delinsTG NP_001158166.1:n.*772_*773delinsTG
NM_001164695.1:c.*859_*860delinsTG NP_001158167.1:n.*859_*860delinsTG
NM_203395.2:c.*672_*673delinsTG NP_981932.1:n.*672_*673delinsTG
NM_001318495.1:c.*672_*673delinsTG NP_001305424.1:n.*672_*673delinsTG
NR_134655.1:n.1855_1856delinsTG
NM_001164694.2:c.*772_*773delinsTG NP_001158166.1:n.*772_*773delinsTG
NM_001164695.2:c.*859_*860delinsTG NP_001158167.1:n.*859_*860delinsTG
NM_001318495.2:c.*672_*673delinsTG NP_001305424.1:n.*672_*673delinsTG
NM_203395.3:c.*672_*673delinsTG MANE Select NP_981932.1:n.*672_*673delinsTG
NR_134655.2:n.1735_1736delinsTG