Linked Data
dbSNP Id:
rs773228879
gnomAD v2:
12-53701426-TGGGCTAAAACG-T
gnomAD v3:
12-53307642-TGGGCTAAAACG-T
gnomAD v4:
12-53307642-TGGGCTAAAACG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307643_53307653del , CM000674.2:g.53307643_53307653del | GRCh38 |
| NC_000012.11:g.53701427_53701437del , CM000674.1:g.53701427_53701437del | GRCh37 |
| NC_000012.10:g.51987694_51987704del | NCBI36 |
| NG_016775.1:g.18976_18986del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1477_1487del MANE Select | ENSP00000209873.4:p.Arg493SerfsTer18 | |
| ENST00000546562.6:n.2541_2551del | ||
| ENST00000547238.6:n.2113_2123del | ||
| ENST00000547520.6:n.1593_1603del | ||
| ENST00000547757.2:c.*395_*405del | ENSP00000448020.2:n.*395_*405del | |
| ENST00000548880.2:n.1927_1937del | ||
| ENST00000548931.6:c.912_922del | ENSP00000457518.1:p.His304GlnfsTer? | |
| ENST00000549450.6:n.1411_1421del | ||
| ENST00000552161.6:n.2555_2565del | ||
| ENST00000672797.1:n.1966_1976del | ||
| ENST00000209873.8:c.1477_1487del | ENSP00000209873.4:p.Arg493SerfsTer18 | |
| ENST00000394384.7:c.1378_1388del | ENSP00000377908.3:p.Arg460SerfsTer18 | |
| ENST00000548931.5:c.912_922del | ENSP00000457518.1:p.His304GlnfsTer? | |
| ENST00000550286.5:c.1105_1115del | ENSP00000446885.1:p.Arg369SerfsTer18 | |
| ENST00000552876.5:n.1820_1830del | ||
| NM_001173466.1:c.1378_1388del | NP_001166937.1:p.Arg460SerfsTer18 | |
| NM_015665.5:c.1477_1487del | NP_056480.1:p.Arg493SerfsTer18 | |
| XM_006719617.2:c.1492_1502del | XP_006719680.1:p.Arg498SerfsTer18 | |
| XM_011538777.1:c.1534_1544del | XP_011537079.1:p.Arg512SerfsTer18 | |
| XM_011538778.1:c.1519_1529del | XP_011537080.1:p.Arg507SerfsTer18 | |
| XM_011538779.1:c.1435_1445del | XP_011537081.1:p.Arg479SerfsTer18 | |
| XM_011538780.1:c.1420_1430del | XP_011537082.1:p.Arg474SerfsTer18 | |
| XM_011538781.1:c.868_878del | XP_011537083.1:p.Arg290SerfsTer18 | |
| XM_011538778.2:c.1519_1529del | XP_011537080.1:p.Arg507SerfsTer18 | |
| XM_011538780.2:c.1420_1430del | XP_011537082.1:p.Arg474SerfsTer18 | |
| XR_001748875.2:n.1534_1544del | ||
| NM_015665.6:c.1477_1487del MANE Select | NP_056480.1:p.Arg493SerfsTer18 | |
| NM_001173466.2:c.1378_1388del | NP_001166937.1:p.Arg460SerfsTer18 |