Linked Data
ClinVar Variation Id:
418238
ClinVar RCV Id:
RCV000485519
dbSNP Id:
rs766355750
ExAC:
5:90107055 ATTC / A
gnomAD v2:
5-90107055-ATTC-A
gnomAD v3:
5-90811238-ATTC-A
gnomAD v4:
5-90811238-ATTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90811243_90811245del , CM000667.2:g.90811243_90811245del | GRCh38 |
| NC_000005.9:g.90107060_90107062del , CM000667.1:g.90107060_90107062del | GRCh37 |
| NC_000005.8:g.90142816_90142818del | NCBI36 |
| NG_007083.1:g.257444_257446del | |
| NG_007083.2:g.286900_286902del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.15983_15985del MANE Select | ENSP00000384582.2:p.Phe5328del | |
| ENST00000425867.3:c.4937_4939del | ENSP00000392618.3:p.Phe1646del | |
| ENST00000638510.1:n.3250_3252del | ||
| ENST00000639431.1:c.265+135034_265+135036del | ENSP00000491057.1:n.265+135034_265+135036... | |
| ENST00000640407.1:c.2393_2395del | ENSP00000491425.1:p.Phe798del | |
| ENST00000405460.6:c.15983_15985del | ENSP00000384582.2:p.Phe5328del | |
| ENST00000425867.2:c.2966_2968del | ENSP00000392618.2:p.Phe989del | |
| NM_032119.3:c.15983_15985del | NP_115495.3:p.Phe5328del | |
| NR_003149.1:n.15996_15998del | ||
| XM_011543675.1:c.15980_15982del | XP_011541977.1:p.Phe5327del | |
| XM_011543676.1:c.15902_15904del | XP_011541978.1:p.Phe5301del | |
| XM_011543677.1:c.13286_13288del | XP_011541979.1:p.Phe4429del | |
| NM_032119.4:c.15983_15985del MANE Select | NP_115495.3:p.Phe5328del | |
| XM_017009963.2:c.16004_16006del | XP_016865452.1:p.Phe5335del | |
| XM_017009964.2:c.16001_16003del | XP_016865453.1:p.Phe5334del | |
| XM_017009965.1:c.16001_16003del | XP_016865454.1:p.Phe5334del | |
| XM_017009966.2:c.15923_15925del | XP_016865455.1:p.Phe5308del | |
| XM_017009967.1:c.15908_15910del | XP_016865456.1:p.Phe5303del | |
| XM_017009968.2:c.15824_15826del | XP_016865457.1:p.Phe5275del | |
| XM_017009969.2:c.16004_16006del | XP_016865458.1:p.Phe5335del | |
| XM_017009972.1:c.9122_9124del | XP_016865461.1:p.Phe3041del | |
| XM_017009973.1:c.9101_9103del | XP_016865462.1:p.Phe3034del | |
| NR_003149.2:n.15999_16001del |