Linked Data
gnomAD v4:
2-27085179-AGCCCCTGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27085185_27085192del , CM000664.2:g.27085185_27085192del | GRCh38 |
| NC_000002.11:g.27308053_27308060del , CM000664.1:g.27308053_27308060del | GRCh37 |
| NC_000002.10:g.27161557_27161564del | NCBI36 |
| NG_012199.1:g.3443_3450del | |
| NG_046849.1:g.11619_11626del | |
| NG_012199.2:g.3443_3450del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2601_2608del MANE Select | ENSP00000369677.4:p.Val868SerfsTer13 | |
| ENST00000380320.8:c.2601_2608del | ENSP00000369677.4:p.Val868SerfsTer13 | |
| ENST00000433140.1:c.593_600del | ||
| NM_007046.3:c.2601_2608del | NP_008977.1:p.Val868SerfsTer13 | |
| XM_006711928.2:c.2575+177_2575+184del | XP_006711991.1:n.2575+177_2575+184del | |
| NM_007046.4:c.2601_2608del MANE Select | NP_008977.1:p.Val868SerfsTer13 |