Linked Data
ClinVar Variation Id:
189554
dbSNP Id:
rs786204967
PubMed:
PMID:15492925
PMID:18266744
PMID:19241098
PMID:19471977
PMID:19793311
PMID:21775177
PMID:22670135
PMID:22678952
PMID:22779007
PMID:22872100
PMID:23064044
PMID:23151060
PMID:23583054
PMID:24564546
PMID:24916645
PMID:25266480
PMID:26708753
PMID:27528505
ERepo:
CA235608/MONDO:0100039/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18604171_18604172del , CM000685.2:g.18604171_18604172del | GRCh38 |
| NC_000023.10:g.18622291_18622292del , CM000685.1:g.18622291_18622292del | GRCh37 |
| NC_000023.9:g.18532212_18532213del | NCBI36 |
| NG_008475.1:g.183567_183568del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.1247_1248del MANE Select | ENSP00000485244.1:p.Glu416ValfsTer2 | |
| ENST00000635828.1:c.1247_1248del | ENSP00000490170.1:p.Glu416ValfsTer2 | |
| ENST00000637881.1:c.1247_1248del | ENSP00000489879.1:p.Glu416ValfsTer2 | |
| ENST00000674046.1:c.1247_1248del | ENSP00000501174.1:p.Glu416ValfsTer2 | |
| ENST00000379989.6:c.1247_1248del | ENSP00000369325.3:p.Glu416ValfsTer2 | |
| ENST00000379996.7:c.1247_1248del | ENSP00000369332.3:p.Glu416ValfsTer2 | |
| ENST00000463994.4:c.1247_1248del | ENSP00000485184.1:p.Glu416ValfsTer2 | |
| ENST00000623535.1:c.1247_1248del | ENSP00000485244.1:p.Glu416ValfsTer2 | |
| NM_001037343.1:c.1247_1248del | NP_001032420.1:p.Glu416ValfsTer2 | |
| NM_003159.2:c.1247_1248del | NP_003150.1:p.Glu416ValfsTer2 | |
| XM_011545569.1:c.1196_1197del | XP_011543871.1:p.Glu399ValfsTer2 | |
| XM_011545570.1:c.1115_1116del | XP_011543872.1:p.Glu372ValfsTer2 | |
| XR_950484.1:n.1499_1500del | ||
| NM_001323289.1:c.1247_1248del | NP_001310218.1:p.Glu416ValfsTer2 | |
| NM_001323289.2:c.1247_1248del MANE Select | NP_001310218.1:p.Glu416ValfsTer2 | |
| NM_001037343.2:c.1247_1248del | NP_001032420.1:p.Glu416ValfsTer2 | |
| NM_003159.3:c.1247_1248del | NP_003150.1:p.Glu416ValfsTer2 |