Linked Data
ClinVar Variation Id:
204251
ClinVar RCV Id:
RCV000186458
dbSNP Id:
rs180177315
ExAC:
9:37429772 AT / A
gnomAD v4:
9-37429775-AT-A
MyVariant Identifiers:
chr9:g.37429775del (hg19)
chr9:g.37429773del (hg19)
chr9:g.37429778del (hg38)
chr9:g.37429776del (hg38)
PubMed:
PMID:14635115
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429778del , CM000671.2:g.37429778del | GRCh38 |
| NC_000009.11:g.37429775del , CM000671.1:g.37429775del | GRCh37 |
| NC_000009.10:g.37419775del | NCBI36 |
| NG_008135.1:g.12069del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.540del MANE Select | ENSP00000313432.6:p.Leu181CysfsTer? | |
| ENST00000318158.10:c.540del | ENSP00000313432.6:p.Leu181CysfsTer? | |
| ENST00000377824.8:n.577del | ||
| ENST00000460882.5:n.567del | ||
| ENST00000480596.5:n.1241del | ||
| ENST00000491488.5:n.245del | ||
| ENST00000494290.1:c.111del | ENSP00000432021.1:p.Leu38CysfsTer? | |
| ENST00000497693.1:n.2073del | ||
| ENST00000607784.1:c.540del | ENSP00000475569.1:p.Leu181CysfsTer? | |
| NM_012203.1:c.540del | NP_036335.1:p.Leu181CysfsTer? | |
| XM_005251631.1:c.219del | XP_005251688.1:p.Leu74CysfsTer? | |
| XM_011518073.1:c.138del | XP_011516375.1:p.Leu47CysfsTer? | |
| XR_929374.1:n.985del | ||
| XM_017015320.2:c.540del | XP_016870809.1:p.Leu181CysfsTer? | |
| XM_017015321.2:c.540del | XP_016870810.1:p.Leu181CysfsTer? | |
| XM_017015323.2:c.138del | XP_016870812.1:p.Leu47CysfsTer? | |
| XM_024447716.1:c.813del | XP_024303484.1:p.Leu272CysfsTer? | |
| XM_024447717.1:c.813del | XP_024303485.1:p.Leu272CysfsTer? | |
| XR_002956828.1:n.828del | ||
| XR_002956829.1:n.828del | ||
| XR_002956830.1:n.599del | ||
| XR_002956831.1:n.274del | ||
| XR_002956832.1:n.959del | ||
| NM_012203.2:c.540del MANE Select | NP_036335.1:p.Leu181CysfsTer? |