Linked Data
ClinVar Variation Id:
12501
ClinVar RCV Id:
RCV000013324
dbSNP Id:
rs587776769
PubMed:
PMID:7761852
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30691496_30691497dup , CM000665.2:g.30691496_30691497dup | GRCh38 |
| NC_000003.11:g.30732988_30732989dup , CM000665.1:g.30732988_30732989dup | GRCh37 |
| NC_000003.10:g.30707992_30707993dup | NCBI36 |
| NG_007490.1:g.89995_89996dup , LRG_779:g.89995_89996dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.1601_1602dup MANE Select | ENSP00000295754.5:p.Ala535TrpfsTer30 | |
| ENST00000672050.1:n.485_486dup | ||
| ENST00000672866.1:n.3197_3198dup | ||
| ENST00000673203.1:n.479_480dup | ||
| ENST00000295754.9:c.1601_1602dup | ENSP00000295754.5:p.Ala535TrpfsTer30 | |
| ENST00000359013.4:c.1676_1677dup | ENSP00000351905.4:p.Ala560TrpfsTer30 | |
| NM_001024847.2:c.1676_1677dup , LRG_779t1:c.1676_1677dup | NP_001020018.1:p.Ala560TrpfsTer30 | |
| NM_003242.5:c.1601_1602dup | NP_003233.4:p.Ala535TrpfsTer30 | |
| XM_011534043.1:c.1628_1629dup | XP_011532345.1:p.Ala544TrpfsTer30 | |
| XM_011534044.1:c.1553_1554dup | XP_011532346.1:p.Ala519TrpfsTer30 | |
| XM_011534045.1:c.1496_1497dup | XP_011532347.1:p.Ala500TrpfsTer30 | |
| XM_011534043.2:c.1628_1629dup | XP_011532345.1:p.Ala544TrpfsTer30 | |
| XM_011534045.3:c.1496_1497dup | XP_011532347.1:p.Ala500TrpfsTer30 | |
| XM_017007106.1:c.1496_1497dup | XP_016862595.1:p.Ala500TrpfsTer30 | |
| NM_003242.6:c.1601_1602dup MANE Select | NP_003233.4:p.Ala535TrpfsTer30 |