Linked Data
gnomAD v4:
X-25010401-GTCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010402_25010405del , CM000685.2:g.25010402_25010405del | GRCh38 |
| NC_000023.10:g.25028519_25028522del , CM000685.1:g.25028519_25028522del | GRCh37 |
| NC_000023.9:g.24938440_24938443del | NCBI36 |
| NG_008281.1:g.10544_10547del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1074-100_1074-97del MANE Select | ENSP00000368332.4:n.1074-100_1074-97del | |
| ENST00000379044.4:c.1074-100_1074-97del | ENSP00000368332.4:n.1074-100_1074-97del | |
| NM_139058.2:c.1074-100_1074-97del | NP_620689.1:n.1074-100_1074-97del | |
| NM_139058.3:c.1074-100_1074-97del MANE Select | NP_620689.1:n.1074-100_1074-97del |