Linked Data
gnomAD v4:
X-134475060-TGCAGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134475061_134475065del , CM000685.2:g.134475061_134475065del | GRCh38 |
| NC_000023.10:g.133609091_133609095del , CM000685.1:g.133609091_133609095del | GRCh37 |
| NC_000023.9:g.133436757_133436761del | NCBI36 |
| NG_012329.1:g.19917_19921del | |
| NG_012329.2:g.19917_19921del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.135-120_135-116del MANE Select | ENSP00000298556.7:n.135-120_135-116del | |
| ENST00000298556.7:c.135-120_135-116del | ENSP00000298556.7:n.135-120_135-116del | |
| ENST00000462974.5:n.293-120_293-116del | ||
| ENST00000475720.1:n.93-120_93-116del | ||
| NM_000194.2:c.135-120_135-116del | NP_000185.1:n.135-120_135-116del | |
| XM_011531328.1:c.153-120_153-116del | XP_011529630.1:n.153-120_153-116del | |
| NM_000194.3:c.135-120_135-116del MANE Select | NP_000185.1:n.135-120_135-116del |