Linked Data
ClinVar Variation Id:
102696
dbSNP Id:
rs62642906
ExAC:
12:103310860 CAG / C
gnomAD v2:
12-103310860-CAG-C
gnomAD v3:
12-102917082-CAG-C
gnomAD v4:
12-102917082-CAG-C
COSMIC:
COSM4766481
MyVariant Identifiers:
chr12:g.103310861_103310862del (hg19)
chr12:g.103310861_103310862delAG (hg19)
chr12:g.102917083_102917084del (hg38)
ERepo:
CA229574/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917087_102917088del , CM000674.2:g.102917087_102917088del | GRCh38 |
| NC_000012.11:g.103310865_103310866del , CM000674.1:g.103310865_103310866del | GRCh37 |
| NC_000012.10:g.101834995_101834996del | NCBI36 |
| NG_008690.1:g.5519_5520del | |
| NG_008690.2:g.46327_46328del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.47_48del MANE Select | ENSP00000448059.1:p.Ser16Ter | |
| ENST00000307000.7:c.-101_-100del | ENSP00000303500.2:n.-101_-100del | |
| ENST00000546844.1:c.47_48del | ENSP00000446658.1:p.Ser16Ter | |
| ENST00000547319.1:n.358_359del | ||
| ENST00000549111.5:n.143_144del | ||
| ENST00000550978.6:c.31_32del | ||
| ENST00000551337.5:c.47_48del | ENSP00000447620.1:p.Ser16Ter | |
| ENST00000551988.5:n.136_137del | ||
| ENST00000553106.5:c.47_48del | ENSP00000448059.1:p.Ser16Ter | |
| ENST00000635500.1:n.29-4186_29-4185del | ||
| NM_000277.1:c.47_48del | NP_000268.1:p.Ser16Ter | |
| XM_011538422.1:c.47_48del | XP_011536724.1:p.Ser16Ter | |
| NM_000277.2:c.47_48del | NP_000268.1:p.Ser16Ter | |
| NM_001354304.1:c.47_48del | NP_001341233.1:p.Ser16Ter | |
| XM_017019370.2:c.47_48del | XP_016874859.1:p.Ser16Ter | |
| NM_000277.3:c.47_48del MANE Select | NP_000268.1:p.Ser16Ter | |
| NM_001354304.2:c.47_48del | NP_001341233.1:p.Ser16Ter |