Linked Data
ClinVar Variation Id:
102900
dbSNP Id:
rs62651568
gnomAD v2:
12-103240701-GGTGCACCCAGA-G
gnomAD v4:
12-102846923-GGTGCACCCAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846925_102846935del , CM000674.2:g.102846925_102846935del | GRCh38 |
| NC_000012.11:g.103240703_103240713del , CM000674.1:g.103240703_103240713del | GRCh37 |
| NC_000012.10:g.101764833_101764843del | NCBI36 |
| NG_008690.1:g.75669_75679del | |
| NG_008690.2:g.116477_116487del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.930_940del MANE Select | ENSP00000448059.1:p.Leu311Ter | |
| ENST00000307000.7:c.915_925del | ENSP00000303500.2:p.Leu306Ter | |
| ENST00000549247.6:n.689_699del | ||
| ENST00000551114.2:n.592_602del | ||
| ENST00000553106.5:c.930_940del | ENSP00000448059.1:p.Leu311Ter | |
| ENST00000635477.1:c.74-2503_74-2493del | ||
| ENST00000635528.1:n.445_455del | ||
| NM_000277.1:c.930_940del | NP_000268.1:p.Leu311Ter | |
| XM_011538422.1:c.913-2503_913-2493del | XP_011536724.1:n.913-2503_913-2493del | |
| NM_000277.2:c.930_940del | NP_000268.1:p.Leu311Ter | |
| NM_001354304.1:c.930_940del | NP_001341233.1:p.Leu311Ter | |
| NM_000277.3:c.930_940del MANE Select | NP_000268.1:p.Leu311Ter | |
| NM_001354304.2:c.930_940del | NP_001341233.1:p.Leu311Ter |