Linked Data
gnomAD v4:
4-55081866-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55081867del , CM000666.2:g.55081867del | GRCh38 |
| NC_000004.11:g.55948034del , CM000666.1:g.55948034del | GRCh37 |
| NC_000004.10:g.55642791del | NCBI36 |
| NG_012004.1:g.48729del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.3848+89del MANE Select | ENSP00000263923.4:n.3848+89del | |
| ENST00000647068.1:n.3861+89del | ||
| ENST00000263923.4:c.3848+89del | ENSP00000263923.4:n.3848+89del | |
| NM_002253.2:c.3848+89del | NP_002244.1:n.3848+89del | |
| NM_002253.3:c.3848+89del | NP_002244.1:n.3848+89del | |
| NM_002253.4:c.3848+89del MANE Select | NP_002244.1:n.3848+89del |