Linked Data
gnomAD v4:
1-154571448-CCGGGCCGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571451_154571458del , CM000663.2:g.154571451_154571458del | GRCh38 |
| NC_000001.10:g.154543927_154543934del , CM000663.1:g.154543927_154543934del | GRCh37 |
| NC_000001.9:g.152810551_152810558del | NCBI36 |
| NG_008027.1:g.8671_8678del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.628_635del MANE Select | ENSP00000357461.3:p.Gly210GlnfsTer15 | |
| ENST00000636034.1:c.628_635del | ENSP00000489703.1:p.Gly210GlnfsTer15 | |
| ENST00000637900.1:c.634_641del | ENSP00000490474.1:p.Gly212GlnfsTer15 | |
| ENST00000368476.3:c.628_635del | ENSP00000357461.3:p.Gly210GlnfsTer15 | |
| NM_000748.2:c.628_635del | NP_000739.1:p.Gly210GlnfsTer15 | |
| XM_017000180.2:c.118_125del | XP_016855669.1:p.Gly40GlnfsTer15 | |
| XR_001736952.2:n.880_887del | ||
| NM_000748.3:c.628_635del MANE Select | NP_000739.1:p.Gly210GlnfsTer15 |