Linked Data
dbSNP Id:
rs1404695905
gnomAD v2:
12-102179837-TTTTTTGGTTTTGCAACA-T
gnomAD v4:
12-101786059-TTTTTTGGTTTTGCAACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786062_101786078del , CM000674.2:g.101786062_101786078del | GRCh38 |
| NC_000012.11:g.102179840_102179856del , CM000674.1:g.102179840_102179856del | GRCh37 |
| NC_000012.10:g.100703971_100703987del | NCBI36 |
| NG_021243.1:g.49792_49808del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.507_523del MANE Select | ENSP00000299314.7:p.Asn169LysfsTer12 | |
| ENST00000299314.11:c.507_523del | ENSP00000299314.7:p.Asn169LysfsTer12 | |
| ENST00000549940.5:c.507_523del | ENSP00000449150.1:p.Asn169LysfsTer12 | |
| ENST00000550352.1:n.301_317del | ||
| ENST00000552681.1:c.141_157del | ENSP00000449217.1:p.Asn47LysfsTer12 | |
| NM_024312.4:c.507_523del | NP_077288.2:p.Asn169LysfsTer12 | |
| XM_006719593.2:c.507_523del | XP_006719656.1:p.Asn169LysfsTer12 | |
| XM_011538731.1:c.426_442del | XP_011537033.1:p.Asn142LysfsTer12 | |
| XM_006719593.3:c.507_523del | XP_006719656.1:p.Asn169LysfsTer12 | |
| XM_011538731.2:c.426_442del | XP_011537033.1:p.Asn142LysfsTer12 | |
| XM_017019961.1:c.291_307del | XP_016875450.1:p.Asn97LysfsTer12 | |
| XM_017019962.2:c.-844_-828del | XP_016875451.1:n.-844_-828del | |
| NM_024312.5:c.507_523del MANE Select | NP_077288.2:p.Asn169LysfsTer12 |