Linked Data
dbSNP Id:
rs774667463
ExAC:
1:67519499 A / AT
gnomAD v2:
1-67519499-A-AT
gnomAD v4:
1-67053816-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67053818dup , CM000663.2:g.67053818dup | GRCh38 |
| NC_000001.10:g.67519501dup , CM000663.1:g.67519501dup | GRCh37 |
| NC_000001.9:g.67292089dup | NCBI36 |
| NG_012933.1:g.5581dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.197dup MANE Select | ENSP00000235345.5:p.Asn66LysfsTer? | |
| ENST00000235345.5:c.197dup | ENSP00000235345.5:p.Asn66LysfsTer? | |
| NM_015139.2:c.197dup | NP_055954.1:p.Asn66LysfsTer? | |
| XM_006710478.1:c.197dup | XP_006710541.1:p.Asn66LysfsTer? | |
| XM_011541070.1:c.197dup | XP_011539372.1:p.Asn66LysfsTer? | |
| XM_006710478.2:c.197dup | XP_006710541.1:p.Asn66LysfsTer? | |
| XM_011541070.2:c.197dup | XP_011539372.1:p.Asn66LysfsTer? | |
| XR_001737057.2:n.607dup | ||
| XR_001737058.2:n.600dup | ||
| NM_015139.3:c.197dup MANE Select | NP_055954.1:p.Asn66LysfsTer? |