Linked Data
ClinVar Variation Id:
397511
dbSNP Id:
rs121908816
gnomAD v2:
2-96930999-TAGAC-T
gnomAD v3:
2-96265261-TAGAC-T
gnomAD v4:
2-96265261-TAGAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96265264_96265267del , CM000664.2:g.96265264_96265267del | GRCh38 |
| NC_000002.11:g.96931002_96931005del , CM000664.1:g.96931002_96931005del | GRCh37 |
| NC_000002.10:g.96294729_96294732del | NCBI36 |
| NG_027695.1:g.5749_5752del , LRG_528:g.5749_5752del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.117_120del MANE Select | ENSP00000258439.3:p.Ile41ArgfsTer? | |
| ENST00000258439.7:c.117_120del | ENSP00000258439.2:p.Ile41ArgfsTer? | |
| ENST00000432959.1:c.117_120del | ENSP00000416660.1:p.Ile41ArgfsTer? | |
| NM_001193304.2:c.117_120del | NP_001180233.1:p.Ile41ArgfsTer? | |
| NM_017849.3:c.117_120del , LRG_528t1:c.117_120del | NP_060319.1:p.Ile41ArgfsTer? | |
| NM_001193304.3:c.117_120del | NP_001180233.1:p.Ile41ArgfsTer? | |
| NM_017849.4:c.117_120del MANE Select | NP_060319.1:p.Ile41ArgfsTer? |