Linked Data
ClinVar Variation Id:
2677433
ClinVar RCV Id:
RCV003471650
dbSNP Id:
rs1875353511
gnomAD v3:
12-102855148-GA-G
gnomAD v4:
12-102855148-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855149del , CM000674.2:g.102855149del | GRCh38 |
| NC_000012.11:g.103248927del , CM000674.1:g.103248927del | GRCh37 |
| NC_000012.10:g.101773057del | NCBI36 |
| NG_008690.1:g.67454del | |
| NG_008690.2:g.108262del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.693del MANE Select | ENSP00000448059.1:p.Gln232SerfsTer? | |
| ENST00000307000.7:c.678del | ENSP00000303500.2:p.Gln227SerfsTer? | |
| ENST00000549111.5:n.789del | ||
| ENST00000553106.5:c.693del | ENSP00000448059.1:p.Gln232SerfsTer? | |
| NM_000277.1:c.693del | NP_000268.1:p.Gln232AsnfsTer? | |
| XM_011538422.1:c.693del | XP_011536724.1:p.Gln232SerfsTer? | |
| NM_000277.2:c.693del | NP_000268.1:p.Gln232SerfsTer? | |
| NM_001354304.1:c.693del | NP_001341233.1:p.Gln232SerfsTer? | |
| XM_017019370.2:c.693del | XP_016874859.1:p.Gln232SerfsTer? | |
| NM_000277.3:c.693del MANE Select | NP_000268.1:p.Gln232SerfsTer? | |
| NM_001354304.2:c.693del | NP_001341233.1:p.Gln232SerfsTer? |