Linked Data
ClinVar Variation Id:
1453608
ClinVar RCV Id:
RCV002002500
dbSNP Id:
rs2126775820
gnomAD v4:
5-132378474-TCAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132378478_132378481del , CM000667.2:g.132378478_132378481del | GRCh38 |
| NC_000005.9:g.131714170_131714173del , CM000667.1:g.131714170_131714173del | GRCh37 |
| NC_000005.8:g.131742069_131742072del | NCBI36 |
| NG_008982.1:g.13770_13773del | |
| NG_008982.2:g.13775_13778del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.494_497del | ENSP00000388838.2:p.Asp165GlyfsTer10 | |
| ENST00000435065.7:c.566_569del | ENSP00000402760.2:p.Asp189GlyfsTer10 | |
| ENST00000448810.6:c.494_497del | ENSP00000401860.2:p.Asp165GlyfsTer10 | |
| ENST00000686757.1:c.494_497del | ENSP00000510721.1:p.Asp165GlyfsTer10 | |
| ENST00000687740.1:n.628_631del | ||
| ENST00000689271.1:c.494_497del | ENSP00000510797.1:p.Asp165GlyfsTer10 | |
| ENST00000690900.1:c.494_497del | ENSP00000510703.1:p.Asp165GlyfsTer10 | |
| ENST00000692355.1:c.46_49del | ||
| ENST00000692413.1:c.494_497del | ENSP00000509374.1:p.Asp165GlyfsTer10 | |
| ENST00000692825.1:c.562_565del | ENSP00000509447.1:n.562_565del | |
| ENST00000693308.1:c.494_497del | ENSP00000509770.1:p.Asp165GlyfsTer10 | |
| ENST00000693763.1:n.628_631del | ||
| ENST00000245407.8:c.494_497del MANE Select | ENSP00000245407.3:p.Asp165GlyfsTer10 | |
| ENST00000245407.7:c.494_497del | ENSP00000245407.3:p.Asp165GlyfsTer10 | |
| ENST00000415928.5:c.263_266del | ENSP00000388838.1:p.Asp88GlyfsTer10 | |
| ENST00000435065.6:c.566_569del | ENSP00000402760.2:p.Asp189GlyfsTer10 | |
| ENST00000437841.6:c.394-6850_394-6847del | ENSP00000400553.1:n.394-6850_394-6847del | |
| ENST00000461013.5:n.2251_2254del | ||
| NM_001308122.1:c.566_569del | NP_001295051.1:p.Asp189GlyfsTer10 | |
| NM_003060.3:c.494_497del | NP_003051.1:p.Asp165GlyfsTer10 | |
| XR_427718.1:n.835_838del | ||
| XR_948290.1:n.835_838del | ||
| XR_948291.1:n.835_838del | ||
| XM_011543590.2:c.-138_-135del | XP_011541892.1:n.-138_-135del | |
| XM_017009778.2:c.-31-5669_-31-5666del | XP_016865267.1:n.-31-5669_-31-5666del | |
| XR_001742215.1:n.835_838del | ||
| XR_001742216.1:n.835_838del | ||
| XR_427718.2:n.835_838del | ||
| XR_948290.2:n.835_838del | ||
| XR_948291.2:n.835_838del | ||
| NM_003060.4:c.494_497del MANE Select | NP_003051.1:p.Asp165GlyfsTer10 | |
| NM_001308122.2:c.566_569del | NP_001295051.1:p.Asp189GlyfsTer10 |