Linked Data
dbSNP Id:
rs1184106172
gnomAD v2:
7-135329799-GACCTTGAAATATAGGAACTGTTCA-G
gnomAD v4:
7-135645051-GACCTTGAAATATAGGAACTGTTCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.135645052_135645075del , CM000669.2:g.135645052_135645075del | GRCh38 |
| NC_000007.13:g.135329800_135329823del , CM000669.1:g.135329800_135329823del | GRCh37 |
| NC_000007.12:g.134980340_134980363del | NCBI36 |
| NG_051184.1:g.92139_92162del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285968.11:c.5683+34_5683+57del MANE Select | ENSP00000285968.6:n.5683+34_5683+57del | |
| ENST00000285968.10:c.5683+34_5683+57del | ENSP00000285968.6:n.5683+34_5683+57del | |
| ENST00000461255.5:n.890+34_890+57del | ||
| ENST00000477620.5:c.1405+74_1405+97del | ||
| ENST00000490439.1:c.120+34_120+57del | ||
| ENST00000607647.5:n.3961+34_3961+57del | ||
| NM_015135.2:c.5683+34_5683+57del | NP_055950.1:n.5683+34_5683+57del | |
| XM_005250235.2:c.4609+34_4609+57del | XP_005250292.1:n.4609+34_4609+57del | |
| NM_001329434.1:c.4609+34_4609+57del | NP_001316363.1:n.4609+34_4609+57del | |
| NM_015135.3:c.5683+34_5683+57del MANE Select | NP_055950.2:n.5683+34_5683+57del | |
| NM_001329434.2:c.4609+34_4609+57del | NP_001316363.2:n.4609+34_4609+57del |