Linked Data
ClinVar Variation Id:
420463
dbSNP Id:
rs763401560
ExAC:
7:152346188 GAAGT / G
gnomAD v2:
7-152346188-GAAGT-G
gnomAD v3:
7-152649103-GAAGT-G
gnomAD v4:
7-152649103-GAAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152649108_152649111del , CM000669.2:g.152649108_152649111del | GRCh38 |
| NC_000007.13:g.152346193_152346196del , CM000669.1:g.152346193_152346196del | GRCh37 |
| NC_000007.12:g.151977126_151977129del | NCBI36 |
| NG_027988.1:g.32059_32062del | |
| NG_027988.2:g.32059_32062del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.210_213del | ENSP00000513758.1:p.Leu70PhefsTer7 | |
| ENST00000359321.2:c.378_381del MANE Select | ENSP00000352271.1:p.Leu126PhefsTer7 | |
| ENST00000359321.1:c.378_381del | ENSP00000352271.1:p.Leu126PhefsTer7 | |
| ENST00000495707.1:n.400_403del | ||
| NM_005431.1:c.378_381del | NP_005422.1:p.Leu126PhefsTer7 | |
| NM_005431.2:c.378_381del MANE Select | NP_005422.1:p.Leu126PhefsTer7 |