Linked Data
ClinVar Variation Id:
3669
ClinVar RCV Id:
RCV000003854
dbSNP Id:
rs794726663
MyVariant Identifiers:
chr16:g.67973933dupT (hg19)
chr16:g.67973932_67973933insT (hg19)
chr16:g.67940030dupT (hg38)
chr16:g.67940029_67940030insT (hg38)
PubMed:
PMID:8432868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940030dup , CM000678.2:g.67940030dup | GRCh38 |
| NC_000016.9:g.67973933dup , CM000678.1:g.67973933dup | GRCh37 |
| NC_000016.8:g.66531434dup | NCBI36 |
| NG_009778.1:g.9083dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1197dup MANE Select | ENSP00000264005.5:p.Gln400ThrfsTer? | |
| ENST00000264005.9:c.1197dup | ENSP00000264005.5:p.Gln400ThrfsTer? | |
| ENST00000570369.5:c.200dup | ||
| ENST00000573538.5:c.935dup | ENSP00000463220.1:n.935dup | |
| NM_000229.1:c.1197dup | NP_000220.1:p.Gln400ThrfsTer? | |
| NM_000229.2:c.1197dup MANE Select | NP_000220.1:p.Gln400ThrfsTer? |