Linked Data
gnomAD v4:
7-129213135-G-GACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129213135_129213136insACA , CM000669.2:g.129213135_129213136insACA | GRCh38 |
| NC_000007.13:g.128852976_128852977insACA , CM000669.1:g.128852976_128852977insACA | GRCh37 |
| NC_000007.12:g.128640212_128640213insACA | NCBI36 |
| NG_023340.1:g.29264_29265insACA | |
| NG_023340.2:g.29264_29265insACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.*684_*685insACA MANE Select | ENSP00000249373.3:n.*684_*685insACA | |
| ENST00000655644.1:c.*2803_*2804insACA | ENSP00000499377.1:n.*2803_*2804insACA | |
| ENST00000249373.7:c.*684_*685insACA | ENSP00000249373.3:n.*684_*685insACA | |
| NM_005631.4:c.*684_*685insACA | NP_005622.1:n.*684_*685insACA | |
| XM_011516522.1:c.*684_*685insACA | XP_011514824.1:n.*684_*685insACA | |
| XM_024446891.1:c.*684_*685insACA | XP_024302659.1:n.*684_*685insACA | |
| NM_005631.5:c.*684_*685insACA MANE Select | NP_005622.1:n.*684_*685insACA |