Linked Data
dbSNP Id:
rs1417165796
gnomAD v2:
7-117232271-AAAC-A
gnomAD v3:
7-117592217-AAAC-A
gnomAD v4:
7-117592217-AAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592220_117592222del , CM000669.2:g.117592220_117592222del | GRCh38 |
| NC_000007.13:g.117232274_117232276del , CM000669.1:g.117232274_117232276del | GRCh37 |
| NC_000007.12:g.117019510_117019512del | NCBI36 |
| NG_016465.4:g.131437_131439del , LRG_663:g.131437_131439del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2053_2055del | ENSP00000497673.2:p.Gln685del | |
| ENST00000647978.2:c.*1767_*1769del | ENSP00000497658.1:n.*1767_*1769del | |
| ENST00000649781.2:c.1870_1872del | ENSP00000497203.1:p.Gln624del | |
| ENST00000685018.2:c.2053_2055del | ENSP00000510194.2:p.Gln685del | |
| ENST00000687278.2:c.2053_2055del | ENSP00000509593.2:p.Gln685del | |
| ENST00000699585.1:c.2053_2055del | ENSP00000514456.1:p.Gln685del | |
| ENST00000699598.1:c.2053_2055del | ENSP00000514467.1:p.Gln685del | |
| ENST00000699599.1:c.2053_2055del | ENSP00000514468.1:p.Gln685del | |
| ENST00000699600.1:c.2053_2055del | ENSP00000514469.1:p.Gln685del | |
| ENST00000699601.1:c.*353_*355del | ENSP00000514470.1:n.*353_*355del | |
| ENST00000699602.1:c.2053_2055del | ENSP00000514471.1:p.Gln685del | |
| ENST00000699604.1:c.*1877_*1879del | ENSP00000514472.1:n.*1877_*1879del | |
| ENST00000699605.1:c.1627_1629del | ENSP00000514473.1:p.Gln543del | |
| ENST00000003084.11:c.2053_2055del MANE Select | ENSP00000003084.6:p.Gln685del | |
| ENST00000647978.1:c.*1767_*1769del | ENSP00000497658.1:n.*1767_*1769del | |
| ENST00000648260.1:c.1402-10606_1402-10604del | ENSP00000497957.1:n.1402-10606_1402-10604... | |
| ENST00000649406.1:c.1870_1872del | ENSP00000497965.1:p.Gln624del | |
| ENST00000649781.1:c.1870_1872del | ENSP00000497203.1:p.Gln624del | |
| ENST00000003084.10:c.2053_2055del | ENSP00000003084.6:p.Gln685del | |
| ENST00000426809.5:c.1963_1965del | ENSP00000389119.1:p.Gln655del | |
| NM_000492.3:c.2053_2055del , LRG_663t1:c.2053_2055del | NP_000483.3:p.Gln685del | |
| XM_011515751.1:c.2143_2145del | XP_011514053.1:p.Gln715del | |
| XM_011515752.1:c.2143_2145del | XP_011514054.1:p.Gln715del | |
| XM_011515753.1:c.1810_1812del | XP_011514055.1:p.Gln604del | |
| XM_011515754.1:c.1810_1812del | XP_011514056.1:p.Gln604del | |
| NM_000492.4:c.2053_2055del MANE Select | NP_000483.3:p.Gln685del |