Linked Data
ClinVar Variation Id:
139609
ClinVar RCV Id:
RCV000128553
dbSNP Id:
rs527236147
ExAC:
11:64517894 TGAA / T
gnomAD v2:
11-64517894-TGAA-T
gnomAD v4:
11-64750422-TGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64750427_64750429del , CM000673.2:g.64750427_64750429del | GRCh38 |
| NC_000011.9:g.64517899_64517901del , CM000673.1:g.64517899_64517901del | GRCh37 |
| NC_000011.8:g.64274475_64274477del | NCBI36 |
| NG_007574.1:g.32_34del , LRG_100:g.32_34del | |
| NG_013018.1:g.15291_15293del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.2128_2130del MANE Select | ENSP00000164139.3:p.Phe710del | |
| ENST00000164139.3:c.2128_2130del | ENSP00000164139.3:p.Phe710del | |
| ENST00000377432.7:c.1864_1866del | ENSP00000366650.3:p.Phe622del | |
| NM_001164716.1:c.1864_1866del | NP_001158188.1:p.Phe622del | |
| NM_005609.2:c.2128_2130del | NP_005600.1:p.Phe710del | |
| NM_005609.3:c.2128_2130del | NP_005600.1:p.Phe710del | |
| NM_005609.4:c.2128_2130del MANE Select | NP_005600.1:p.Phe710del |