Linked Data
ClinVar Variation Id:
200656
ClinVar RCV Id:
RCV000181985
dbSNP Id:
rs794728447
MyVariant Identifiers:
chr7:g.150645539_150645540insGG (hg19)
chr7:g.150948451_150948452insGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948452_150948453insGG , CM000669.2:g.150948452_150948453insGG | GRCh38 |
| NC_000007.13:g.150645540_150645541insGG , CM000669.1:g.150645540_150645541insGG | GRCh37 |
| NC_000007.12:g.150276473_150276474insGG | NCBI36 |
| NG_008916.1:g.34475_34476insCC , LRG_288:g.34475_34476insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3517_3518insCC | ||
| ENST00000262186.10:c.2684_2685insCC MANE Select | ENSP00000262186.5:p.Asp896ArgfsTer? | |
| ENST00000330883.9:c.1664_1665insCC | ENSP00000328531.4:p.Asp556ArgfsTer? | |
| ENST00000262186.9:c.2684_2685insCC | ENSP00000262186.5:p.Asp896ArgfsTer? | |
| ENST00000330883.8:c.1664_1665insCC | ENSP00000328531.4:p.Asp556ArgfsTer? | |
| NM_000238.3:c.2684_2685insCC , LRG_288t1:c.2684_2685insCC | NP_000229.1:p.Asp896ArgfsTer? | |
| NM_172057.2:c.1664_1665insCC , LRG_288t3:c.1664_1665insCC | NP_742054.1:p.Asp556ArgfsTer? | |
| XM_011516185.1:c.2384_2385insCC | XP_011514487.1:p.Asp796ArgfsTer? | |
| XM_011516186.1:c.2684_2685insCC | XP_011514488.1:p.Asp896ArgfsTer? | |
| XM_011516185.2:c.2384_2385insCC | XP_011514487.1:p.Asp796ArgfsTer? | |
| XM_011516186.3:c.2684_2685insCC | XP_011514488.1:p.Asp896ArgfsTer? | |
| XM_017012195.1:c.2534_2535insCC | XP_016867684.1:p.Asp846ArgfsTer? | |
| XM_017012196.1:c.2507_2508insCC | XP_016867685.1:p.Asp837ArgfsTer? | |
| NM_000238.4:c.2684_2685insCC MANE Select | NP_000229.1:p.Asp896ArgfsTer? | |
| NM_172057.3:c.1664_1665insCC | NP_742054.1:p.Asp556ArgfsTer? |