Linked Data
dbSNP Id:
rs1950761567
gnomAD v3:
11-113410785-ATGATGGGGT-A
gnomAD v4:
11-113410785-ATGATGGGGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113410787_113410795del , CM000673.2:g.113410787_113410795del | GRCh38 |
| NC_000011.9:g.113281509_113281517del , CM000673.1:g.113281509_113281517del | GRCh37 |
| NC_000011.8:g.112786719_112786727del | NCBI36 |
| NG_008841.1:g.69486_69494del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.1265_1273del MANE Select | ENSP00000354859.3:p.Asn422_Ile424del | |
| ENST00000346454.7:c.1178_1186del | ENSP00000278597.5:p.Asn393_Ile395del | |
| ENST00000362072.7:c.1265_1273del | ENSP00000354859.3:p.Asn422_Ile424del | |
| ENST00000538967.5:c.1271_1279del | ENSP00000438215.1:p.Asn424_Ile426del | |
| ENST00000542968.5:c.1265_1273del | ENSP00000442172.1:p.Asn422_Ile424del | |
| ENST00000544518.5:c.1262_1270del | ENSP00000441068.1:p.Asn421_Ile423del | |
| NM_000795.3:c.1265_1273del | NP_000786.1:p.Asn422_Ile424del | |
| NM_016574.3:c.1178_1186del | NP_057658.2:p.Asn393_Ile395del | |
| XM_017017296.2:c.1265_1273del | XP_016872785.1:p.Asn422_Ile424del | |
| NM_000795.4:c.1265_1273del MANE Select | NP_000786.1:p.Asn422_Ile424del | |
| NM_016574.4:c.1178_1186del | NP_057658.2:p.Asn393_Ile395del |