Linked Data
gnomAD v4:
10-80273845-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273846_80273847del , CM000672.2:g.80273846_80273847del | GRCh38 |
| NC_000010.10:g.82033602_82033603del , CM000672.1:g.82033602_82033603del | GRCh37 |
| NC_000010.9:g.82023582_82023583del | NCBI36 |
| NG_008083.1:g.20832_20833del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.1122_1123del MANE Select | ENSP00000361287.3:p.Ala375MetfsTer? | |
| ENST00000372213.7:c.1122_1123del | ENSP00000361287.3:p.Ala375MetfsTer? | |
| ENST00000480845.1:n.354_355del | ||
| ENST00000485270.5:n.634_635del | ||
| NM_000429.2:c.1122_1123del | NP_000420.1:p.Ala375MetfsTer? | |
| XM_005269842.3:c.1122_1123del | XP_005269899.1:p.Ala375MetfsTer? | |
| XM_005269843.3:c.999_1000del | XP_005269900.1:p.Ala334MetfsTer? | |
| NM_000429.3:c.1122_1123del MANE Select | NP_000420.1:p.Ala375MetfsTer? |