Linked Data
ClinVar Variation Id:
95296
dbSNP Id:
rs398124210
ExAC:
11:64514745 GT / G
gnomAD v2:
11-64514745-GT-G
gnomAD v3:
11-64747273-GT-G
gnomAD v4:
11-64747273-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64747276del , CM000673.2:g.64747276del | GRCh38 |
| NC_000011.9:g.64514748del , CM000673.1:g.64514748del | GRCh37 |
| NC_000011.8:g.64271324del | NCBI36 |
| NG_007574.1:g.3183del , LRG_100:g.3183del | |
| NG_013018.1:g.18442del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.2262del MANE Select | ENSP00000164139.3:p.Lys754AsnfsTer? | |
| ENST00000164139.3:c.2262del | ENSP00000164139.3:p.Lys754AsnfsTer? | |
| ENST00000377432.7:c.1998del | ENSP00000366650.3:p.Lys666AsnfsTer? | |
| ENST00000483742.1:n.1615del | ||
| NM_001164716.1:c.1998del | NP_001158188.1:p.Lys666AsnfsTer? | |
| NM_005609.2:c.2262del | NP_005600.1:p.Lys754AsnfsTer? | |
| NM_005609.3:c.2262del | NP_005600.1:p.Lys754AsnfsTer? | |
| NM_005609.4:c.2262del MANE Select | NP_005600.1:p.Lys754AsnfsTer? |