Linked Data
dbSNP Id:
rs374771640
gnomAD v2:
4-74270302-TAAA-T
gnomAD v3:
4-73404585-TAAA-T
gnomAD v4:
4-73404585-TAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404596_73404598del , CM000666.2:g.73404596_73404598del | GRCh38 |
| NC_000004.11:g.74270313_74270315del , CM000666.1:g.74270313_74270315del | GRCh37 |
| NC_000004.10:g.74489177_74489179del | NCBI36 |
| NG_009291.1:g.5342_5344del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.79+190_79+192del MANE Select | ENSP00000295897.4:n.79+190_79+192del | |
| ENST00000295897.8:c.79+190_79+192del | ENSP00000295897.4:n.79+190_79+192del | |
| ENST00000401494.7:c.79+190_79+192del | ENSP00000384695.3:n.79+190_79+192del | |
| ENST00000415165.6:c.79+190_79+192del | ENSP00000401820.2:n.79+190_79+192del | |
| ENST00000441319.5:c.85+190_85+192del | ENSP00000392541.1:n.85+190_85+192del | |
| ENST00000476441.6:c.79+190_79+192del | ENSP00000423727.1:n.79+190_79+192del | |
| ENST00000503124.5:c.-102+190_-102+192del | ENSP00000421027.1:n.-102+190_-102+192del | |
| ENST00000509063.5:c.79+190_79+192del | ENSP00000422784.1:n.79+190_79+192del | |
| ENST00000510166.5:n.120+190_120+192del | ||
| ENST00000514786.1:n.48+260_48+262del | ||
| ENST00000515133.5:n.120+190_120+192del | ||
| ENST00000621085.4:c.79+190_79+192del | ENSP00000483421.1:n.79+190_79+192del | |
| ENST00000621628.4:c.79+190_79+192del | ENSP00000480485.1:n.79+190_79+192del | |
| NM_000477.5:c.79+190_79+192del | NP_000468.1:n.79+190_79+192del | |
| NM_000477.6:c.79+190_79+192del | NP_000468.1:n.79+190_79+192del | |
| NM_000477.7:c.79+190_79+192del MANE Select | NP_000468.1:n.79+190_79+192del |