Linked Data
gnomAD v4:
14-23396545-GACAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23396550_23396553del , CM000676.2:g.23396550_23396553del | GRCh38 |
| NC_000014.8:g.23865759_23865762del , CM000676.1:g.23865759_23865762del | GRCh37 |
| NC_000014.7:g.22935599_22935602del | NCBI36 |
| NG_023444.1:g.16729_16732del , LRG_389:g.16729_16732del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.2293-129_2293-126del MANE Select | ENSP00000386041.3:n.2293-129_2293-126del | |
| ENST00000356287.3:c.2293-129_2293-126del | ENSP00000348634.3:n.2293-129_2293-126del | |
| ENST00000405093.7:c.2293-129_2293-126del | ENSP00000386041.3:n.2293-129_2293-126del | |
| NM_002471.3:c.2293-129_2293-126del , LRG_389t1:c.2293-129_2293-126del | NP_002462.2:n.2293-129_2293-126del | |
| NM_002471.4:c.2293-129_2293-126del MANE Select | NP_002462.2:n.2293-129_2293-126del |