Linked Data
ClinVar Variation Id:
329436
dbSNP Id:
rs879996553
gnomAD v2:
19-42498342-GCGTC-G
gnomAD v3:
19-41994190-GCGTC-G
gnomAD v4:
19-41994190-GCGTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41994206_41994209del , CM000681.2:g.41994206_41994209del | GRCh38 |
| NC_000019.9:g.42498358_42498361del , CM000681.1:g.42498358_42498361del | GRCh37 |
| NC_000019.8:g.47190198_47190201del | NCBI36 |
| NG_008015.1:g.5037_5040del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.-118_-115del | ENSP00000444688.1:n.-118_-115del | |
| ENST00000644613.1:c.-118_-115del | ENSP00000494711.1:n.-118_-115del | |
| ENST00000648268.1:c.-118_-115del MANE Select | ENSP00000498113.1:n.-118_-115del | |
| ENST00000302102.9:c.-118_-115del | ENSP00000302397.5:n.-118_-115del | |
| ENST00000441343.5:c.-118_-115del | ENSP00000411503.1:n.-118_-115del | |
| ENST00000473086.3:c.-85+3253_-85+3256del | ENSP00000469129.2:n.-85+3253_-85+3256del | |
| ENST00000545399.5:c.-118_-115del | ENSP00000444688.1:n.-118_-115del | |
| NM_001256214.1:c.-118_-115del | NP_001243143.1:n.-118_-115del | |
| NM_152296.4:c.-118_-115del | NP_689509.1:n.-118_-115del | |
| NM_152296.5:c.-118_-115del MANE Select | NP_689509.1:n.-118_-115del | |
| NM_001256214.2:c.-118_-115del | NP_001243143.1:n.-118_-115del |