Linked Data
dbSNP Id:
rs764588882
ExAC:
3:165548420 A / AT
gnomAD v2:
3-165548420-A-AT
gnomAD v3:
3-165830632-A-AT
gnomAD v4:
3-165830632-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830638dup , CM000665.2:g.165830638dup | GRCh38 |
| NC_000003.11:g.165548426dup , CM000665.1:g.165548426dup | GRCh37 |
| NC_000003.10:g.167031120dup | NCBI36 |
| NG_009031.1:g.11833dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.401dup MANE Select | ENSP00000264381.3:p.Asn134LysfsTer24 | |
| ENST00000264381.7:c.401dup | ENSP00000264381.3:p.Asn134LysfsTer24 | |
| ENST00000479451.5:c.107+6681dup | ENSP00000418325.1:n.107+6681dup | |
| ENST00000482958.1:c.401dup | ENSP00000419804.1:p.Asn134LysfsTer24 | |
| ENST00000488954.1:c.107+6681dup | ENSP00000418504.1:n.107+6681dup | |
| ENST00000497011.5:c.401dup | ENSP00000419505.1:p.Asn134LysfsTer24 | |
| NM_000055.2:c.401dup | NP_000046.1:p.Asn134LysfsTer24 | |
| XM_005247685.1:c.524dup | XP_005247742.1:p.Asn175LysfsTer24 | |
| NM_000055.3:c.401dup | NP_000046.1:p.Asn134LysfsTer24 | |
| NR_137635.1:n.159+6681dup | ||
| NR_137636.1:n.568dup | ||
| NM_000055.4:c.401dup MANE Select | NP_000046.1:p.Asn134LysfsTer24 | |
| NR_137635.2:n.110+6681dup | ||
| NR_137636.2:n.519dup |