Linked Data
gnomAD v4:
4-52038103-CCGCCGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038105_52038111del , CM000666.2:g.52038105_52038111del | GRCh38 |
| NC_000004.11:g.52904271_52904277del , CM000666.1:g.52904271_52904277del | GRCh37 |
| NC_000004.10:g.52599028_52599034del | NCBI36 |
| NG_008891.1:g.5210_5216del , LRG_204:g.5210_5216del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.33+117_33+123del MANE Select | ENSP00000370839.6:n.33+117_33+123del | |
| ENST00000381431.9:c.33+117_33+123del | ENSP00000370839.5:n.33+117_33+123del | |
| ENST00000506357.5:c.19+117_19+123del | ||
| NM_000232.4:c.33+117_33+123del , LRG_204t1:c.33+117_33+123del | NP_000223.1:n.33+117_33+123del | |
| XM_011534403.1:c.33+117_33+123del | XP_011532705.1:n.33+117_33+123del | |
| NM_000232.5:c.33+117_33+123del MANE Select | NP_000223.1:n.33+117_33+123del |