Linked Data
gnomAD v4:
7-94401529-T-TTATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401540_94401543dup , CM000669.2:g.94401540_94401543dup | GRCh38 |
| NC_000007.13:g.94030852_94030855dup , CM000669.1:g.94030852_94030855dup | GRCh37 |
| NC_000007.12:g.93868788_93868791dup | NCBI36 |
| NG_007405.1:g.11980_11983dup , LRG_2:g.11980_11983dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.226-27_226-24dup MANE Select | ENSP00000297268.6:n.226-27_226-24dup | |
| ENST00000297268.10:c.226-27_226-24dup | ENSP00000297268.6:n.226-27_226-24dup | |
| ENST00000620463.1:c.220-27_220-24dup | ENSP00000477719.1:n.220-27_220-24dup | |
| NM_000089.3:c.226-27_226-24dup , LRG_2t1:c.226-27_226-24dup | NP_000080.2:n.226-27_226-24dup | |
| NM_000089.4:c.226-27_226-24dup MANE Select | NP_000080.2:n.226-27_226-24dup |