Linked Data
ClinVar Variation Id:
92745
dbSNP Id:
rs398123293
ExAC:
12:103249127 A / AAAT
gnomAD v2:
12-103249127-A-AAAT
gnomAD v3:
12-102855349-A-AAAT
gnomAD v4:
12-102855349-A-AAAT
MyVariant Identifiers:
chr12:g.103249128_103249130dup (hg19)
chr12:g.103249128_103249130dupAAT (hg19)
chr12:g.103249127_103249128insAAT (hg19)
chr12:g.102855350_102855352dupAAT (hg38)
chr12:g.102855349_102855350insAAT (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855351_102855353dup , CM000674.2:g.102855351_102855353dup | GRCh38 |
| NC_000012.11:g.103249129_103249131dup , CM000674.1:g.103249129_103249131dup | GRCh37 |
| NC_000012.10:g.101773259_101773261dup | NCBI36 |
| NG_008690.1:g.67251_67253dup | |
| NG_008690.2:g.108059_108061dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.510-20_510-18dup MANE Select | ENSP00000448059.1:n.510-20_510-18dup | |
| ENST00000307000.7:c.495-20_495-18dup | ENSP00000303500.2:n.495-20_495-18dup | |
| ENST00000549111.5:n.606-20_606-18dup | ||
| ENST00000551988.5:n.531-20_531-18dup | ||
| ENST00000553106.5:c.510-20_510-18dup | ENSP00000448059.1:n.510-20_510-18dup | |
| NM_000277.1:c.510-20_510-18dup | NP_000268.1:n.510-20_510-18dup | |
| XM_011538422.1:c.510-20_510-18dup | XP_011536724.1:n.510-20_510-18dup | |
| NM_000277.2:c.510-20_510-18dup | NP_000268.1:n.510-20_510-18dup | |
| NM_001354304.1:c.510-20_510-18dup | NP_001341233.1:n.510-20_510-18dup | |
| XM_017019370.2:c.510-20_510-18dup | XP_016874859.1:n.510-20_510-18dup | |
| NM_000277.3:c.510-20_510-18dup MANE Select | NP_000268.1:n.510-20_510-18dup | |
| NM_001354304.2:c.510-20_510-18dup | NP_001341233.1:n.510-20_510-18dup |