Linked Data
ClinVar Variation Id:
371401
ClinVar RCV Id:
RCV000409554
dbSNP Id:
rs1057517243
gnomAD v2:
1-100327251-AG-A
gnomAD v3:
1-99861695-AG-A
gnomAD v4:
1-99861695-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99861696del , CM000663.2:g.99861696del | GRCh38 |
| NC_000001.10:g.100327252del , CM000663.1:g.100327252del | GRCh37 |
| NC_000001.9:g.100099840del | NCBI36 |
| NG_012865.1:g.16613del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.276del MANE Select | ENSP00000355106.3:p.Gln92HisfsTer16 | |
| ENST00000637337.1:n.487del | ||
| ENST00000294724.8:c.276del | ENSP00000294724.4:p.Gln92HisfsTer16 | |
| ENST00000361302.7:c.228del | ENSP00000354971.3:p.Gln76HisfsTer16 | |
| ENST00000361522.4:c.225del | ENSP00000354635.4:p.Gln75HisfsTer16 | |
| ENST00000361915.7:c.276del | ENSP00000355106.3:p.Gln92HisfsTer16 | |
| ENST00000370161.6:c.228del | ENSP00000359180.2:p.Gln76HisfsTer16 | |
| ENST00000370163.7:c.276del | ENSP00000359182.3:p.Gln92HisfsTer16 | |
| ENST00000370165.7:c.276del | ENSP00000359184.3:p.Gln92HisfsTer16 | |
| NM_000028.2:c.276del | NP_000019.2:p.Gln92HisfsTer16 | |
| NM_000642.2:c.276del | NP_000633.2:p.Gln92HisfsTer16 | |
| NM_000643.2:c.276del | NP_000634.2:p.Gln92HisfsTer16 | |
| NM_000644.2:c.276del | NP_000635.2:p.Gln92HisfsTer16 | |
| NM_000645.2:c.225del | NP_000636.2:p.Gln75HisfsTer16 | |
| NM_000646.2:c.228del | NP_000637.2:p.Gln76HisfsTer16 | |
| XM_005270557.1:c.276del | XP_005270614.1:p.Gln92HisfsTer16 | |
| XM_005270557.2:c.276del | XP_005270614.1:p.Gln92HisfsTer16 | |
| NM_000642.3:c.276del MANE Select | NP_000633.2:p.Gln92HisfsTer16 |