Linked Data
gnomAD v2:
1-154544177-ACG-A
gnomAD v4:
1-154571701-ACG-A
MyVariant Identifiers:
chr1:g.154544178_154544183delinsTGCC (hg19)
chr1:g.154571702_154571707delinsTGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571702_154571703del , CM000663.2:g.154571702_154571703del | GRCh38 |
| NC_000001.10:g.154544178_154544179del , CM000663.1:g.154544178_154544179del | GRCh37 |
| NC_000001.9:g.152810802_152810803del | NCBI36 |
| NG_008027.1:g.8922_8923del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.879_880del MANE Select | ENSP00000357461.3:p.Val294AlafsTer? | |
| ENST00000636034.1:c.879_880del | ENSP00000489703.1:p.Val294AlafsTer? | |
| ENST00000637900.1:c.885_886del | ENSP00000490474.1:p.Val296AlafsTer? | |
| ENST00000368476.3:c.879_880del | ENSP00000357461.3:p.Val294AlafsTer? | |
| NM_000748.2:c.879_880del | NP_000739.1:p.Val294AlafsTer? | |
| XM_017000180.2:c.369_370del | XP_016855669.1:p.Val124AlafsTer? | |
| XR_001736952.2:n.1131_1132del | ||
| NM_000748.3:c.879_880del MANE Select | NP_000739.1:p.Val294AlafsTer? |