Linked Data
ClinVar Variation Id:
52999
ClinVar RCV Id:
RCV000003272
dbSNP Id:
rs397515637
MyVariant Identifiers:
chr11:g.2797229_2797234delinsGTTGAGA (hg19)
chr11:g.2775999_2776004delinsGTTGAGA (hg38)
PubMed:
PMID:9020846
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2775999_2776004delinsGTTGAGA , CM000673.2:g.2775999_2776004delinsGTTGAGA | GRCh38 |
| NC_000011.9:g.2797229_2797234delinsGTTGAGA , CM000673.1:g.2797229_2797234delinsGTTGAGA | GRCh37 |
| NC_000011.8:g.2753805_2753810delinsGTTGAGA | NCBI36 |
| NG_008935.1:g.336009_336014delinsGTTGAGA , LRG_287:g.336009_336014delinsGTTGAGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1273_1278delinsGTTGAGA | ENSP00000434560.2:p.Gln425ValfsTer? | |
| ENST00000646564.2:c.1090_1095delinsGTTGAGA | ENSP00000495806.2:p.Gln364ValfsTer? | |
| ENST00000155840.12:c.1630_1635delinsGTTGAGA MANE Select | ENSP00000155840.2:p.Gln544ValfsTer? | |
| ENST00000335475.6:c.1249_1254delinsGTTGAGA | ENSP00000334497.5:p.Gln417ValfsTer? | |
| ENST00000646564.1:c.736_741delinsGTTGAGA | ENSP00000495806.1:p.Gln246ValfsTer? | |
| ENST00000155840.9:c.1630_1635delinsGTTGAGA | ENSP00000155840.2:p.Gln544ValfsTer? | |
| ENST00000335475.5:c.1249_1254delinsGTTGAGA | ENSP00000334497.5:p.Gln417ValfsTer? | |
| NM_000218.2:c.1630_1635delinsGTTGAGA , LRG_287t1:c.1630_1635delinsGTTGAGA | NP_000209.2:p.Gln544ValfsTer? | |
| NM_181798.1:c.1249_1254delinsGTTGAGA , LRG_287t2:c.1249_1254delinsGTTGAGA | NP_861463.1:p.Gln417ValfsTer? | |
| NM_000218.3:c.1630_1635delinsGTTGAGA MANE Select | NP_000209.2:p.Gln544ValfsTer? |