Linked Data
ClinVar Variation Id:
9025
ClinVar RCV Id:
RCV000009591
dbSNP Id:
rs137854504
MyVariant Identifiers:
chr9:g.139091690_139091691delinsAGGA (hg19)
chr9:g.136199844_136199845delinsAGGA (hg38)
PubMed:
PMID:17327381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136199844_136199845delinsAGGA , CM000671.2:g.136199844_136199845delinsAGGA | GRCh38 |
| NC_000009.11:g.139091690_139091691delinsAGGA , CM000671.1:g.139091690_139091691delinsAGGA | GRCh37 |
| NC_000009.10:g.138231511_138231512delinsAGGA | NCBI36 |
| NG_008097.1:g.10265_10266delinsTCCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371746.9:c.302_303delinsTCCT | ENSP00000360811.3:p.Gly101ValfsTer? | |
| ENST00000371748.10:c.287_288delinsTCCT MANE Select | ENSP00000360813.4:p.Gly96ValfsTer? | |
| ENST00000645419.1:n.1112_1113delinsTCCT | ||
| ENST00000371746.7:c.302_303delinsTCCT | ENSP00000360811.3:p.Gly101ValfsTer? | |
| ENST00000371748.9:c.287_288delinsTCCT | ENSP00000360813.4:p.Gly96ValfsTer? | |
| ENST00000619587.1:c.254_255delinsTCCT | ENSP00000483080.1:p.Gly85ValfsTer? | |
| NM_014564.3:c.302_303delinsTCCT | NP_055379.1:p.Gly101ValfsTer? | |
| NM_178138.4:c.287_288delinsTCCT | NP_835258.1:p.Gly96ValfsTer? | |
| XM_005263410.1:c.254_255delinsTCCT | XP_005263467.1:p.Gly85ValfsTer? | |
| NM_001363746.1:c.254_255delinsTCCT | NP_001350675.1:p.Gly85ValfsTer? | |
| NM_014564.4:c.302_303delinsTCCT | NP_055379.1:p.Gly101ValfsTer? | |
| NM_178138.5:c.287_288delinsTCCT | NP_835258.1:p.Gly96ValfsTer? | |
| XM_017015168.1:c.215_216delinsTCCT | XP_016870657.1:p.Gly72ValfsTer? | |
| NM_178138.6:c.287_288delinsTCCT MANE Select | NP_835258.1:p.Gly96ValfsTer? | |
| NM_014564.5:c.302_303delinsTCCT | NP_055379.1:p.Gly101ValfsTer? |