Linked Data
ClinVar Variation Id:
56431
dbSNP Id:
rs386833873
ExAC:
19:36342510 CAG / C
gnomAD v2:
19-36342510-CAG-C
gnomAD v3:
19-35851608-CAG-C
gnomAD v4:
19-35851608-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35851609_35851610del , CM000681.2:g.35851609_35851610del | GRCh38 |
| NC_000019.9:g.36342511_36342512del , CM000681.1:g.36342511_36342512del | GRCh37 |
| NC_000019.8:g.41034351_41034352del | NCBI36 |
| NG_013356.2:g.22678_22679del , LRG_693:g.22678_22679del | |
| NG_051206.1:g.4975_4976del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378910.10:c.121_122del MANE Select | ENSP00000368190.4:p.Leu41AspfsTer? | |
| ENST00000353632.6:c.121_122del | ENSP00000343634.5:p.Leu41AspfsTer? | |
| ENST00000378910.9:c.121_122del | ENSP00000368190.4:p.Leu41AspfsTer? | |
| NM_004646.3:c.121_122del , LRG_693t1:c.121_122del | NP_004637.1:p.Leu41AspfsTer? | |
| NM_004646.4:c.121_122del MANE Select | NP_004637.1:p.Leu41AspfsTer? |