Linked Data
dbSNP Id:
rs1402429494
gnomAD v2:
11-2610010-TCCCCCA-T
gnomAD v3:
11-2588780-TCCCCCA-T
gnomAD v4:
11-2588780-TCCCCCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2588781_2588786del , CM000673.2:g.2588781_2588786del | GRCh38 |
| NC_000011.9:g.2610011_2610016del , CM000673.1:g.2610011_2610016del | GRCh37 |
| NC_000011.8:g.2566587_2566592del | NCBI36 |
| NG_008935.1:g.148791_148796del , LRG_287:g.148791_148796del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.963_968del | ENSP00000434560.2:p.Pro322_His323del | |
| ENST00000646564.2:c.780_785del | ENSP00000495806.2:p.Pro261_His262del | |
| ENST00000155840.12:c.1320_1325del MANE Select | ENSP00000155840.2:p.Pro441_His442del | |
| ENST00000335475.6:c.939_944del | ENSP00000334497.5:p.Pro314_His315del | |
| ENST00000646564.1:c.426_431del | ENSP00000495806.1:p.Pro143_His144del | |
| ENST00000155840.9:c.1320_1325del | ENSP00000155840.2:p.Pro441_His442del | |
| ENST00000335475.5:c.939_944del | ENSP00000334497.5:p.Pro314_His315del | |
| NM_000218.2:c.1320_1325del , LRG_287t1:c.1320_1325del | NP_000209.2:p.Pro441_His442del | |
| NM_181798.1:c.939_944del , LRG_287t2:c.939_944del | NP_861463.1:p.Pro314_His315del | |
| NM_000218.3:c.1320_1325del MANE Select | NP_000209.2:p.Pro441_His442del |