Linked Data
ClinVar Variation Id:
161110
ClinVar RCV Id:
RCV000148291
dbSNP Id:
rs606231418
gnomAD v4:
2-203868016-TG-T
PubMed:
PMID:25213377
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203868017del , CM000664.2:g.203868017del | GRCh38 |
| NC_000002.11:g.204732740del , CM000664.1:g.204732740del | GRCh37 |
| NC_000002.10:g.204440985del | NCBI36 |
| NG_011502.1:g.5232del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696049.1:c.75del | ENSP00000512353.1:p.Leu28PhefsTer? | |
| ENST00000696479.1:c.147del | ENSP00000512655.1:p.Leu52PhefsTer? | |
| ENST00000648405.2:c.75del MANE Select | ENSP00000497102.1:p.Leu28PhefsTer? | |
| ENST00000295854.10:c.75del | ENSP00000295854.6:p.Leu28PhefsTer? | |
| ENST00000302823.7:c.75del | ENSP00000303939.3:p.Leu28PhefsTer? | |
| ENST00000472206.1:c.75del | ENSP00000417779.1:p.Leu28PhefsTer? | |
| ENST00000487393.1:n.75del | ||
| NM_001037631.2:c.75del | NP_001032720.1:p.Leu28PhefsTer? | |
| NM_005214.4:c.75del | NP_005205.2:p.Leu28PhefsTer? | |
| XR_241294.1:n.215del | ||
| NM_001037631.3:c.75del | NP_001032720.1:p.Leu28PhefsTer? | |
| NM_005214.5:c.75del MANE Select | NP_005205.2:p.Leu28PhefsTer? |