UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
53618
ClinVar RCV Id:
RCV000046747
dbSNP Id:
rs397508472
gnomAD v4:
7-117610523-TATTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117610527_117610530del , CM000669.2:g.117610527_117610530del | GRCh38 |
| NC_000007.13:g.117250581_117250584del , CM000669.1:g.117250581_117250584del | GRCh37 |
| NC_000007.12:g.117037817_117037820del | NCBI36 |
| NG_016465.4:g.149744_149747del , LRG_663:g.149744_149747del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2997_3000del | ENSP00000497673.2:p.Ile1000Ter | |
| ENST00000647978.2:c.*2711_*2714del | ENSP00000497658.1:n.*2711_*2714del | |
| ENST00000649781.2:c.2814_2817del | ENSP00000497203.1:p.Ile939Ter | |
| ENST00000685018.2:c.2997_3000del | ENSP00000510194.2:p.Ile1000Ter | |
| ENST00000687278.2:c.2997_3000del | ENSP00000509593.2:p.Ile1000Ter | |
| ENST00000699585.1:c.2997_3000del | ENSP00000514456.1:p.Ile1000Ter | |
| ENST00000699598.1:c.2997_3000del | ENSP00000514467.1:p.Ile1000Ter | |
| ENST00000699599.1:c.2997_3000del | ENSP00000514468.1:p.Ile1000Ter | |
| ENST00000699600.1:c.2997_3000del | ENSP00000514469.1:p.Ile1000Ter | |
| ENST00000699601.1:c.*1297_*1300del | ENSP00000514470.1:n.*1297_*1300del | |
| ENST00000699602.1:c.2997_3000del | ENSP00000514471.1:p.Ile1000Ter | |
| ENST00000699604.1:c.*2821_*2824del | ENSP00000514472.1:n.*2821_*2824del | |
| ENST00000699605.1:c.2571_2574del | ENSP00000514473.1:p.Ile858Ter | |
| ENST00000687278.1:c.588_591del | ENSP00000509593.1:p.Ile197Ter | |
| ENST00000003084.11:c.2997_3000del MANE Select | ENSP00000003084.6:p.Ile1000Ter | |
| ENST00000647720.1:c.647_650del | ||
| ENST00000648260.1:c.1779_1782del | ENSP00000497957.1:p.Ile594Ter | |
| ENST00000649406.1:c.2814_2817del | ENSP00000497965.1:p.Ile939Ter | |
| ENST00000649781.1:c.2814_2817del | ENSP00000497203.1:p.Ile939Ter | |
| ENST00000003084.10:c.2997_3000del | ENSP00000003084.6:p.Ile1000Ter | |
| ENST00000426809.5:c.2907_2910del | ENSP00000389119.1:p.Ile970Ter | |
| NM_000492.3:c.2997_3000del , LRG_663t1:c.2997_3000del | NP_000483.3:p.Ile1000Ter | |
| XM_011515751.1:c.3087_3090del | XP_011514053.1:p.Ile1030Ter | |
| XM_011515752.1:c.3087_3090del | XP_011514054.1:p.Ile1030Ter | |
| XM_011515753.1:c.2754_2757del | XP_011514055.1:p.Ile919Ter | |
| XM_011515754.1:c.2754_2757del | XP_011514056.1:p.Ile919Ter | |
| NM_000492.4:c.2997_3000del MANE Select | NP_000483.3:p.Ile1000Ter |