Linked Data
ClinVar Variation Id:
2173845
ClinVar RCV Id:
RCV002584780
dbSNP Id:
rs1823678428
gnomAD v4:
9-37436725-T-TAACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436727_37436730dup , CM000671.2:g.37436727_37436730dup | GRCh38 |
| NC_000009.11:g.37436724_37436727dup , CM000671.1:g.37436724_37436727dup | GRCh37 |
| NC_000009.10:g.37426724_37426727dup | NCBI36 |
| NG_008135.1:g.19018_19021dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.932_935dup MANE Select | ENSP00000313432.6:p.Asn312LysfsTer14 | |
| ENST00000318158.10:c.932_935dup | ENSP00000313432.6:p.Asn312LysfsTer14 | |
| ENST00000460882.5:n.959_962dup | ||
| ENST00000480596.5:n.1633_1636dup | ||
| ENST00000494290.1:c.*52-154_*52-151dup | ENSP00000432021.1:n.*52-154_*52-151dup | |
| ENST00000497693.1:n.4500_4503dup | ||
| NM_012203.1:c.932_935dup | NP_036335.1:p.Asn312LysfsTer14 | |
| XM_005251631.1:c.611_614dup | XP_005251688.1:p.Asn205LysfsTer14 | |
| XM_011518073.1:c.530_533dup | XP_011516375.1:p.Asn178LysfsTer14 | |
| XM_017015320.2:c.946-684_946-681dup | XP_016870809.1:n.946-684_946-681dup | |
| XM_017015321.2:c.866-684_866-681dup | XP_016870810.1:n.866-684_866-681dup | |
| XM_017015323.2:c.544-684_544-681dup | XP_016870812.1:n.544-684_544-681dup | |
| XM_024447716.1:c.1219-684_1219-681dup | XP_024303484.1:n.1219-684_1219-681dup | |
| XM_024447717.1:c.1139-684_1139-681dup | XP_024303485.1:n.1139-684_1139-681dup | |
| XR_002956828.1:n.1234-684_1234-681dup | ||
| XR_002956829.1:n.1154-684_1154-681dup | ||
| XR_002956830.1:n.2352_2355dup | ||
| XR_002956831.1:n.2027_2030dup | ||
| XR_002956832.1:n.1351_1354dup | ||
| NM_012203.2:c.932_935dup MANE Select | NP_036335.1:p.Asn312LysfsTer14 |