Linked Data
gnomAD v4:
2-96143348-AGACACACGCAACAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96143356_96143369del , CM000664.2:g.96143356_96143369del | GRCh38 |
| NC_000002.11:g.96809095_96809108del , CM000664.1:g.96809095_96809108del | GRCh37 |
| NC_000002.10:g.96172822_96172835del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288943.5:c.*461_*474del MANE Select | ENSP00000288943.4:n.*461_*474del | |
| ENST00000288943.4:c.*461_*474del | ENSP00000288943.4:n.*461_*474del | |
| NM_004418.3:c.*461_*474del | NP_004409.1:n.*461_*474del | |
| XM_017003546.1:c.*461_*474del | XP_016859035.1:n.*461_*474del | |
| NM_004418.4:c.*461_*474del MANE Select | NP_004409.1:n.*461_*474del |