Linked Data
dbSNP Id:
rs778610421
ExAC:
1:113460355 CTTT / C
gnomAD v2:
1-113460355-CTTT-C
gnomAD v3:
1-112917733-CTTT-C
gnomAD v4:
1-112917733-CTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112917737_112917739del , CM000663.2:g.112917737_112917739del | GRCh38 |
| NC_000001.10:g.113460359_113460361del , CM000663.1:g.113460359_113460361del | GRCh37 |
| NC_000001.9:g.113261882_113261884del | NCBI36 |
| NG_015880.2:g.43193_43195del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.670_672del MANE Select | ENSP00000358640.4:p.Lys224del | |
| ENST00000429288.2:c.670_672del | ENSP00000397106.2:p.Lys224del | |
| ENST00000443580.6:c.670_672del | ENSP00000399104.2:p.Lys224del | |
| ENST00000458229.6:c.670_672del | ENSP00000416167.2:p.Lys224del | |
| ENST00000679803.1:c.670_672del | ENSP00000505879.1:p.Lys224del | |
| ENST00000679846.1:n.1587_1589del | ||
| ENST00000369626.7:c.670_672del | ENSP00000358640.3:p.Lys224del | |
| ENST00000443580.5:c.670_672del | ENSP00000399104.1:p.Lys224del | |
| ENST00000458229.5:c.670_672del | ENSP00000416167.1:p.Lys224del | |
| ENST00000538576.5:c.670_672del | ENSP00000441065.1:p.Lys224del | |
| NM_001166496.1:c.670_672del | NP_001159968.1:p.Lys224del | |
| NM_003051.3:c.670_672del | NP_003042.3:p.Lys224del | |
| XM_011542026.1:c.670_672del | XP_011540328.1:p.Lys224del | |
| XM_011542027.1:c.670_672del | XP_011540329.1:p.Lys224del | |
| NM_003051.4:c.670_672del MANE Select | NP_003042.3:p.Lys224del | |
| NM_001166496.2:c.670_672del | NP_001159968.1:p.Lys224del |