Linked Data
ClinVar Variation Id:
2091589
ClinVar RCV Id:
RCV003015674
dbSNP Id:
rs1361160803
gnomAD v2:
12-102179836-G-GT
gnomAD v4:
12-101786058-G-GT
MyVariant Identifiers:
chr12:g.102179836_102179837insT (hg19)
chr12:g.101786058_101786059insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786064dup , CM000674.2:g.101786064dup | GRCh38 |
| NC_000012.11:g.102179842dup , CM000674.1:g.102179842dup | GRCh37 |
| NC_000012.10:g.100703973dup | NCBI36 |
| NG_021243.1:g.49809dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.524dup MANE Select | ENSP00000299314.7:p.Asn175LysfsTer12 | |
| ENST00000299314.11:c.524dup | ENSP00000299314.7:p.Asn175LysfsTer12 | |
| ENST00000549940.5:c.524dup | ENSP00000449150.1:p.Asn175LysfsTer12 | |
| ENST00000550352.1:n.318dup | ||
| ENST00000552681.1:c.158dup | ENSP00000449217.1:p.Asn53LysfsTer12 | |
| NM_024312.4:c.524dup | NP_077288.2:p.Asn175LysfsTer12 | |
| XM_006719593.2:c.524dup | XP_006719656.1:p.Asn175LysfsTer12 | |
| XM_011538731.1:c.443dup | XP_011537033.1:p.Asn148LysfsTer12 | |
| XM_006719593.3:c.524dup | XP_006719656.1:p.Asn175LysfsTer12 | |
| XM_011538731.2:c.443dup | XP_011537033.1:p.Asn148LysfsTer12 | |
| XM_017019961.1:c.308dup | XP_016875450.1:p.Asn103LysfsTer12 | |
| XM_017019962.2:c.-827dup | XP_016875451.1:n.-827dup | |
| NM_024312.5:c.524dup MANE Select | NP_077288.2:p.Asn175LysfsTer12 |