Linked Data
dbSNP Id:
rs1254821796
gnomAD v2:
3-170724875-AGTG-A
gnomAD v3:
3-171007086-AGTG-A
gnomAD v4:
3-171007086-AGTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.171007089_171007091del , CM000665.2:g.171007089_171007091del | GRCh38 |
| NC_000003.11:g.170724878_170724880del , CM000665.1:g.170724878_170724880del | GRCh37 |
| NC_000003.10:g.172207572_172207574del | NCBI36 |
| NG_008108.1:g.24891_24893del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314251.8:c.612+59_612+61del MANE Select | ENSP00000323568.3:n.612+59_612+61del | |
| ENST00000314251.7:c.612+59_612+61del | ENSP00000323568.3:n.612+59_612+61del | |
| ENST00000461867.1:c.93+59_93+61del | ENSP00000418888.1:n.93+59_93+61del | |
| ENST00000469787.1:c.*79+59_*79+61del | ENSP00000417918.1:n.*79+59_*79+61del | |
| ENST00000471379.1:n.323+59_323+61del | ||
| ENST00000497642.5:c.*79+59_*79+61del | ENSP00000418456.1:n.*79+59_*79+61del | |
| NM_000340.1:c.612+59_612+61del | NP_000331.1:n.612+59_612+61del | |
| NM_001278658.1:c.255+59_255+61del | NP_001265587.1:n.255+59_255+61del | |
| NM_001278659.1:c.93+59_93+61del | NP_001265588.1:n.93+59_93+61del | |
| XM_011513087.1:c.567+59_567+61del | XP_011511389.1:n.567+59_567+61del | |
| XM_011513088.1:c.393+59_393+61del | XP_011511390.1:n.393+59_393+61del | |
| XM_011513089.1:c.93+59_93+61del | XP_011511391.1:n.93+59_93+61del | |
| XM_011513087.2:c.567+59_567+61del | XP_011511389.1:n.567+59_567+61del | |
| XM_024453720.1:c.93+59_93+61del | XP_024309488.1:n.93+59_93+61del | |
| NM_000340.2:c.612+59_612+61del MANE Select | NP_000331.1:n.612+59_612+61del | |
| NM_001278658.2:c.255+59_255+61del | NP_001265587.1:n.255+59_255+61del | |
| NM_001278659.2:c.93+59_93+61del | NP_001265588.1:n.93+59_93+61del |