Linked Data
gnomAD v4:
1-192811756-G-GCTTCTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811756_192811757insCTTCTCC , CM000663.2:g.192811756_192811757insCTTCTCC | GRCh38 |
| NC_000001.10:g.192780886_192780887insCTTCTCC , CM000663.1:g.192780886_192780887insCTTCTCC | GRCh37 |
| NC_000001.9:g.191047509_191047510insCTTCTCC | NCBI36 |
| NG_012800.1:g.7718_7719insCTTCTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*160_*161insCTTCTCC MANE Select | ENSP00000235382.5:n.*160_*161insCTTCTCC | |
| ENST00000235382.6:c.*160_*161insCTTCTCC | ENSP00000235382.5:n.*160_*161insCTTCTCC | |
| NM_002923.3:c.*160_*161insCTTCTCC | NP_002914.1:n.*160_*161insCTTCTCC | |
| NM_002923.4:c.*160_*161insCTTCTCC MANE Select | NP_002914.1:n.*160_*161insCTTCTCC |