Linked Data
ClinVar Variation Id:
2917432
ClinVar RCV Id:
RCV003634336
dbSNP Id:
rs1298999791
gnomAD v2:
1-100327958-CTT-C
gnomAD v4:
1-99862402-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99862403_99862404del , CM000663.2:g.99862403_99862404del | GRCh38 |
| NC_000001.10:g.100327959_100327960del , CM000663.1:g.100327959_100327960del | GRCh37 |
| NC_000001.9:g.100100547_100100548del | NCBI36 |
| NG_012865.1:g.17320_17321del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.440_441del MANE Select | ENSP00000355106.3:p.Leu147GlnfsTer23 | |
| ENST00000637337.1:n.651_652del | ||
| ENST00000294724.8:c.440_441del | ENSP00000294724.4:p.Leu147GlnfsTer23 | |
| ENST00000361302.7:c.392_393del | ENSP00000354971.3:p.Leu131GlnfsTer23 | |
| ENST00000361522.4:c.389_390del | ENSP00000354635.4:p.Leu130GlnfsTer23 | |
| ENST00000361915.7:c.440_441del | ENSP00000355106.3:p.Leu147GlnfsTer23 | |
| ENST00000370161.6:c.392_393del | ENSP00000359180.2:p.Leu131GlnfsTer23 | |
| ENST00000370163.7:c.440_441del | ENSP00000359182.3:p.Leu147GlnfsTer23 | |
| ENST00000370165.7:c.440_441del | ENSP00000359184.3:p.Leu147GlnfsTer23 | |
| NM_000028.2:c.440_441del | NP_000019.2:p.Leu147GlnfsTer23 | |
| NM_000642.2:c.440_441del | NP_000633.2:p.Leu147GlnfsTer23 | |
| NM_000643.2:c.440_441del | NP_000634.2:p.Leu147GlnfsTer23 | |
| NM_000644.2:c.440_441del | NP_000635.2:p.Leu147GlnfsTer23 | |
| NM_000645.2:c.389_390del | NP_000636.2:p.Leu130GlnfsTer23 | |
| NM_000646.2:c.392_393del | NP_000637.2:p.Leu131GlnfsTer23 | |
| XM_005270557.1:c.440_441del | XP_005270614.1:p.Leu147GlnfsTer23 | |
| XM_005270557.2:c.440_441del | XP_005270614.1:p.Leu147GlnfsTer23 | |
| NM_000642.3:c.440_441del MANE Select | NP_000633.2:p.Leu147GlnfsTer23 |