Linked Data
ClinVar Variation Id:
25376
dbSNP Id:
rs386134195
gnomAD v2:
5-131714130-GGT-G
gnomAD v3:
5-132378438-GGT-G
gnomAD v4:
5-132378438-GGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132378442_132378443del , CM000667.2:g.132378442_132378443del | GRCh38 |
| NC_000005.9:g.131714134_131714135del , CM000667.1:g.131714134_131714135del | GRCh37 |
| NC_000005.8:g.131742033_131742034del | NCBI36 |
| NG_008982.1:g.13734_13735del | |
| NG_008982.2:g.13739_13740del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.458_459del | ENSP00000388838.2:p.Val153AlafsTer? | |
| ENST00000435065.7:c.530_531del | ENSP00000402760.2:p.Val177AlafsTer? | |
| ENST00000448810.6:c.458_459del | ENSP00000401860.2:p.Val153AlafsTer? | |
| ENST00000686757.1:c.458_459del | ENSP00000510721.1:p.Val153AlafsTer? | |
| ENST00000687740.1:n.592_593del | ||
| ENST00000689271.1:c.458_459del | ENSP00000510797.1:p.Val153AlafsTer? | |
| ENST00000690900.1:c.458_459del | ENSP00000510703.1:p.Val153AlafsTer? | |
| ENST00000692355.1:c.10_11del | ||
| ENST00000692413.1:c.458_459del | ENSP00000509374.1:p.Val153AlafsTer? | |
| ENST00000692825.1:c.526_527del | ENSP00000509447.1:n.526_527del | |
| ENST00000693308.1:c.458_459del | ENSP00000509770.1:p.Val153AlafsTer? | |
| ENST00000693763.1:n.592_593del | ||
| ENST00000245407.8:c.458_459del MANE Select | ENSP00000245407.3:p.Val153AlafsTer? | |
| ENST00000245407.7:c.458_459del | ENSP00000245407.3:p.Val153AlafsTer? | |
| ENST00000415928.5:c.227_228del | ENSP00000388838.1:p.Val76AlafsTer? | |
| ENST00000435065.6:c.530_531del | ENSP00000402760.2:p.Val177AlafsTer? | |
| ENST00000437841.6:c.394-6886_394-6885del | ENSP00000400553.1:n.394-6886_394-6885del | |
| ENST00000461013.5:n.2215_2216del | ||
| NM_001308122.1:c.530_531del | NP_001295051.1:p.Val177AlafsTer? | |
| NM_003060.3:c.458_459del | NP_003051.1:p.Val153AlafsTer? | |
| XR_427718.1:n.799_800del | ||
| XR_948290.1:n.799_800del | ||
| XR_948291.1:n.799_800del | ||
| XM_011543590.2:c.-174_-173del | XP_011541892.1:n.-174_-173del | |
| XM_017009778.2:c.-31-5705_-31-5704del | XP_016865267.1:n.-31-5705_-31-5704del | |
| XR_001742215.1:n.799_800del | ||
| XR_001742216.1:n.799_800del | ||
| XR_427718.2:n.799_800del | ||
| XR_948290.2:n.799_800del | ||
| XR_948291.2:n.799_800del | ||
| NM_003060.4:c.458_459del MANE Select | NP_003051.1:p.Val153AlafsTer? | |
| NM_001308122.2:c.530_531del | NP_001295051.1:p.Val177AlafsTer? |