Linked Data
dbSNP Id:
rs201160789
gnomAD v3:
22-37723746-CTCA-C
gnomAD v4:
22-37723746-CTCA-C
COSMIC:
COSM1740939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37723747_37723749del , CM000684.2:g.37723747_37723749del | GRCh38 |
| NC_000022.10:g.38119754_38119756del , CM000684.1:g.38119754_38119756del | GRCh37 |
| NC_000022.9:g.36449700_36449702del | NCBI36 |
| NG_012857.1:g.31760_31762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.1191_1193del MANE Select | ENSP00000496394.1:p.Gln398del | |
| ENST00000344404.10:c.*674_*676del | ENSP00000340312.6:n.*674_*676del | |
| ENST00000406386.7:c.1191_1193del | ENSP00000384312.3:p.Gln398del | |
| ENST00000455236.4:c.2148_2150del | ENSP00000477208.1:n.2148_2150del | |
| ENST00000492485.5:n.1125_1127del | ||
| NM_001039141.2:c.1191_1193del | NP_001034230.1:p.Gln398del | |
| NM_001039141.3:c.1191_1193del MANE Select | NP_001034230.1:p.Gln398del |