Linked Data
ClinVar Variation Id:
216037
dbSNP Id:
rs730881708
gnomAD v2:
9-97933391-TTC-T
gnomAD v3:
9-95171109-TTC-T
gnomAD v4:
9-95171109-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95171115_95171116del , CM000671.2:g.95171115_95171116del | GRCh38 |
| NC_000009.11:g.97933397_97933398del , CM000671.1:g.97933397_97933398del | GRCh37 |
| NC_000009.10:g.96973218_96973219del | NCBI36 |
| NG_011707.1:g.151599_151600del , LRG_497:g.151599_151600del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696261.1:n.880_881del | ||
| ENST00000289081.8:c.489_490del MANE Select | ENSP00000289081.3:p.Asn164SerfsTer3 | |
| ENST00000375305.6:c.489_490del | ENSP00000364454.1:p.Asn164SerfsTer3 | |
| ENST00000490972.7:c.489_490del | ENSP00000479931.1:p.Asn164SerfsTer3 | |
| ENST00000636777.1:n.547_548del | ||
| ENST00000649334.1:c.634_635del | ENSP00000497735.1:n.634_635del | |
| ENST00000649701.1:n.204_205del | ||
| ENST00000289081.7:c.489_490del | ENSP00000289081.3:p.Asn164SerfsTer3 | |
| ENST00000375305.5:c.489_490del | ENSP00000364454.1:p.Asn164SerfsTer3 | |
| ENST00000490972.6:c.489_490del | ENSP00000479931.1:p.Asn164SerfsTer3 | |
| NM_000136.2:c.489_490del , LRG_497t1:c.489_490del | NP_000127.2:p.Asn164SerfsTer3 | |
| NM_001243743.1:c.489_490del | NP_001230672.1:p.Asn164SerfsTer3 | |
| NM_001243744.1:c.489_490del | NP_001230673.1:p.Asn164SerfsTer3 | |
| XM_006717001.1:c.489_490del | XP_006717064.1:p.Asn164SerfsTer3 | |
| XM_006717002.2:c.489_490del | XP_006717065.1:p.Asn164SerfsTer3 | |
| XM_006717004.2:c.489_490del | XP_006717067.1:p.Asn164SerfsTer3 | |
| XM_011518365.1:c.489_490del | XP_011516667.1:p.Asn164SerfsTer3 | |
| XM_011518366.1:c.489_490del | XP_011516668.1:p.Asn164SerfsTer3 | |
| XM_011518367.1:c.33_34del | XP_011516669.1:p.Asn12SerfsTer3 | |
| XM_006717001.3:c.489_490del | XP_006717064.1:p.Asn164SerfsTer3 | |
| XM_006717002.4:c.489_490del | XP_006717065.1:p.Asn164SerfsTer3 | |
| XM_006717004.4:c.489_490del | XP_006717067.1:p.Asn164SerfsTer3 | |
| XM_011518365.3:c.489_490del | XP_011516667.1:p.Asn164SerfsTer3 | |
| XM_011518366.3:c.489_490del | XP_011516668.1:p.Asn164SerfsTer3 | |
| XM_011518367.2:c.33_34del | XP_011516669.1:p.Asn12SerfsTer3 | |
| XM_017014452.2:c.33_34del | XP_016869941.1:p.Asn12SerfsTer3 | |
| XM_017014453.1:c.33_34del | XP_016869942.1:p.Asn12SerfsTer3 | |
| XM_017014454.1:c.33_34del | XP_016869943.1:p.Asn12SerfsTer3 | |
| XM_024447451.1:c.489_490del | XP_024303219.1:p.Asn164SerfsTer3 | |
| NM_000136.3:c.489_490del MANE Select | NP_000127.2:p.Asn164SerfsTer3 | |
| NM_001243743.2:c.489_490del | NP_001230672.1:p.Asn164SerfsTer3 | |
| NM_001243744.2:c.489_490del | NP_001230673.1:p.Asn164SerfsTer3 |