Linked Data
dbSNP Id:
rs66565287
gnomAD v2:
6-31239270-GATCCA-G
gnomAD v3:
6-31271493-GATCCA-G
gnomAD v4:
6-31271493-GATCCA-G
COSMIC:
COSN20124205
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271494_31271498del , CM000668.2:g.31271494_31271498del | GRCh38 |
| NC_000006.11:g.31239271_31239275del , CM000668.1:g.31239271_31239275del | GRCh37 |
| NC_000006.10:g.31347250_31347254del | NCBI36 |
| NG_029422.2:g.5634_5638del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.343+101_343+105del MANE Select | ENSP00000365402.5:n.343+101_343+105del | |
| ENST00000376228.9:c.343+101_343+105del | ENSP00000365402.5:n.343+101_343+105del | |
| ENST00000376237.8:c.343+101_343+105del | ENSP00000365412.4:n.343+101_343+105del | |
| ENST00000383329.7:c.343+101_343+105del | ENSP00000372819.3:n.343+101_343+105del | |
| ENST00000415537.1:c.341+101_341+105del | ||
| ENST00000484378.1:n.463_467del | ||
| ENST00000487245.5:n.553_557del | ||
| ENST00000495835.1:n.532+101_532+105del | ||
| NM_002117.5:c.343+101_343+105del | NP_002108.4:n.343+101_343+105del | |
| NM_002117.6:c.343+101_343+105del MANE Select | NP_002108.4:n.343+101_343+105del |