Linked Data
ClinVar Variation Id:
53732
ClinVar RCV Id:
RCV001009406
dbSNP Id:
rs397508552
MyVariant Identifiers:
chr7:g.117254699_117254700delinsGTA (hg19)
chr7:g.117614645_117614646delinsGTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614645_117614646delinsGTA , CM000669.2:g.117614645_117614646delinsGTA | GRCh38 |
| NC_000007.13:g.117254699_117254700delinsGTA , CM000669.1:g.117254699_117254700delinsGTA | GRCh37 |
| NC_000007.12:g.117041935_117041936delinsGTA | NCBI36 |
| NG_016465.4:g.153862_153863delinsGTA , LRG_663:g.153862_153863delinsGTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3400_3401delinsGTA | ENSP00000497673.2:p.Thr1134ValfsTer22 | |
| ENST00000647978.2:c.*3114_*3115delinsGTA | ENSP00000497658.1:n.*3114_*3115delinsGTA | |
| ENST00000649781.2:c.3217_3218delinsGTA | ENSP00000497203.1:p.Thr1073ValfsTer22 | |
| ENST00000685018.2:c.3400_3401delinsGTA | ENSP00000510194.2:p.Thr1134ValfsTer22 | |
| ENST00000687278.2:c.3400_3401delinsGTA | ENSP00000509593.2:p.Thr1134ValfsTer22 | |
| ENST00000699585.1:c.3400_3401delinsGTA | ENSP00000514456.1:p.Thr1134ValfsTer22 | |
| ENST00000699598.1:c.3400_3401delinsGTA | ENSP00000514467.1:p.Thr1134ValfsTer22 | |
| ENST00000699599.1:c.3400_3401delinsGTA | ENSP00000514468.1:p.Thr1134ValfsTer22 | |
| ENST00000699600.1:c.3400_3401delinsGTA | ENSP00000514469.1:p.Thr1134ValfsTer22 | |
| ENST00000699601.1:c.*1775_*1776delinsGTA | ENSP00000514470.1:n.*1775_*1776delinsGTA | |
| ENST00000699602.1:c.3394_3395delinsGTA | ENSP00000514471.1:p.Thr1132ValfsTer22 | |
| ENST00000699604.1:c.*3224_*3225delinsGTA | ENSP00000514472.1:n.*3224_*3225delinsGTA | |
| ENST00000699605.1:c.2974_2975delinsGTA | ENSP00000514473.1:p.Thr992ValfsTer22 | |
| ENST00000685018.1:c.148_149delinsGTA | ENSP00000510194.1:p.Thr50ValfsTer22 | |
| ENST00000687278.1:c.991_992delinsGTA | ENSP00000509593.1:p.Thr331ValfsTer22 | |
| ENST00000003084.11:c.3400_3401delinsGTA MANE Select | ENSP00000003084.6:p.Thr1134ValfsTer22 | |
| ENST00000647720.1:c.1050_1051delinsGTA | ||
| ENST00000648260.1:c.2182_2183delinsGTA | ENSP00000497957.1:p.Thr728ValfsTer22 | |
| ENST00000649406.1:c.3217_3218delinsGTA | ENSP00000497965.1:p.Thr1073ValfsTer22 | |
| ENST00000649781.1:c.3217_3218delinsGTA | ENSP00000497203.1:p.Thr1073ValfsTer22 | |
| ENST00000003084.10:c.3400_3401delinsGTA | ENSP00000003084.6:p.Thr1134ValfsTer22 | |
| ENST00000426809.5:c.3310_3311delinsGTA | ENSP00000389119.1:p.Thr1104ValfsTer22 | |
| ENST00000468795.1:c.225_226delinsGTA | ||
| NM_000492.3:c.3400_3401delinsGTA , LRG_663t1:c.3400_3401delinsGTA | NP_000483.3:p.Thr1134ValfsTer22 | |
| XM_011515751.1:c.3490_3491delinsGTA | XP_011514053.1:p.Thr1164ValfsTer22 | |
| XM_011515752.1:c.3490_3491delinsGTA | XP_011514054.1:p.Thr1164ValfsTer22 | |
| XM_011515753.1:c.3157_3158delinsGTA | XP_011514055.1:p.Thr1053ValfsTer22 | |
| XM_011515754.1:c.3157_3158delinsGTA | XP_011514056.1:p.Thr1053ValfsTer22 | |
| NM_000492.4:c.3400_3401delinsGTA MANE Select | NP_000483.3:p.Thr1134ValfsTer22 |