Linked Data
ClinVar Variation Id:
194161
dbSNP Id:
rs794727086
gnomAD v3:
12-102839172-GCTTTA-G
gnomAD v4:
12-102839172-GCTTTA-G
MyVariant Identifiers:
chr12:g.103232956_103232960del (hg19)
chr12:g.103232951_103232955del (hg19)
chr12:g.102839178_102839182del (hg38)
chr12:g.102839173_102839177del (hg38)
PubMed:
PMID:23891399
ERepo:
CA274987/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102839178_102839182del , CM000674.2:g.102839178_102839182del | GRCh38 |
| NC_000012.11:g.103232956_103232960del , CM000674.1:g.103232956_103232960del | GRCh37 |
| NC_000012.10:g.101757086_101757090del | NCBI36 |
| NG_008690.1:g.83426_83430del | |
| NG_008690.2:g.124234_124238del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1357_*2del MANE Select | ENSP00000448059.1:n.[c.1357_*2del;Ter453ProextTer?] | |
| ENST00000307000.7:c.1342_*2del | ENSP00000303500.2:n.[c.1342_*2del;Ter448ProextTer?] | |
| ENST00000551114.2:n.1019_1023del | ||
| ENST00000553106.5:c.1357_*2del | ENSP00000448059.1:n.[c.1357_*2del;Ter453ProextTer?] | |
| ENST00000635528.1:n.872_876del | ||
| NM_000277.1:c.1357_*2del | NP_000268.1:n.[c.1357_*2del;Ter453ProextTer?] | |
| XM_011538422.1:c.1300_*2del | XP_011536724.1:n.[c.1300_*2del;Ter434ProextTer?] | |
| NM_000277.2:c.1357_*2del | NP_000268.1:n.[c.1357_*2del;Ter453ProextTer?] | |
| NM_001354304.1:c.1357_*2del | NP_001341233.1:n.[c.1357_*2del;Ter453ProextTer?] | |
| NM_000277.3:c.1357_*2del MANE Select | NP_000268.1:n.[c.1357_*2del;Ter453ProextTer?] | |
| NM_001354304.2:c.1357_*2del | NP_001341233.1:n.[c.1357_*2del;Ter453ProextTer?] |