Linked Data
dbSNP Id:
rs1395455499
gnomAD v2:
16-68868529-TTGTC-T
gnomAD v3:
16-68834626-TTGTC-T
gnomAD v4:
16-68834626-TTGTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68834629_68834632del , CM000678.2:g.68834629_68834632del | GRCh38 |
| NC_000016.9:g.68868532_68868535del , CM000678.1:g.68868532_68868535del | GRCh37 |
| NC_000016.8:g.67426033_67426036del | NCBI36 |
| NG_008021.1:g.102338_102341del , LRG_301:g.102338_102341del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.*1130_*1133del MANE Select | ENSP00000261769.4:n.*1130_*1133del | |
| ENST00000261769.9:c.*1130_*1133del | ENSP00000261769.4:n.*1130_*1133del | |
| ENST00000566612.5:c.*2019_*2022del | ENSP00000454782.1:n.*2019_*2022del | |
| ENST00000611625.4:c.*1130_*1133del | ENSP00000481063.1:n.*1130_*1133del | |
| ENST00000621016.4:c.*348_*351del | ENSP00000480664.1:n.*348_*351del | |
| NM_004360.3:c.*1130_*1133del , LRG_301t1:c.*1130_*1133del | NP_004351.1:n.*1130_*1133del | |
| XM_011523488.1:c.*1130_*1133del | XP_011521790.1:n.*1130_*1133del | |
| XM_011523489.1:c.*1130_*1133del | XP_011521791.1:n.*1130_*1133del | |
| NM_001317184.1:c.*1130_*1133del | NP_001304113.1:n.*1130_*1133del | |
| NM_001317185.1:c.*1130_*1133del | NP_001304114.1:n.*1130_*1133del | |
| NM_001317186.1:c.*1130_*1133del | NP_001304115.1:n.*1130_*1133del | |
| NM_004360.4:c.*1130_*1133del | NP_004351.1:n.*1130_*1133del | |
| NM_004360.5:c.*1130_*1133del MANE Select | NP_004351.1:n.*1130_*1133del | |
| NM_001317184.2:c.*1130_*1133del | NP_001304113.1:n.*1130_*1133del | |
| NM_001317185.2:c.*1130_*1133del | NP_001304114.1:n.*1130_*1133del | |
| NM_001317186.2:c.*1130_*1133del | NP_001304115.1:n.*1130_*1133del |