Linked Data
gnomAD v4:
3-184059926-CCCATGCCTAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184059927_184059936del , CM000665.2:g.184059927_184059936del | GRCh38 |
| NC_000003.11:g.183777715_183777724del , CM000665.1:g.183777715_183777724del | GRCh37 |
| NC_000003.10:g.185260409_185260418del | NCBI36 |
| NG_012749.1:g.11881_11890del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1025_1034del MANE Select | ENSP00000322617.1:p.Pro342ArgfsTer? | |
| ENST00000318351.1:c.1025_1034del | ENSP00000322617.1:p.Pro342ArgfsTer? | |
| NM_130770.2:c.1025_1034del | NP_570126.2:p.Pro342ArgfsTer? | |
| NM_130770.3:c.1025_1034del MANE Select | NP_570126.2:p.Pro342ArgfsTer? |