Linked Data
ClinVar Variation Id:
2077035
ClinVar RCV Id:
RCV002972624
dbSNP Id:
rs3838786
gnomAD v3:
11-6390705-TGCTGGCGCTGGCGCTGGCGCTGGC-T
gnomAD v4:
11-6390705-TGCTGGCGCTGGCGCTGGCGCTGGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390718_6390741del , CM000673.2:g.6390718_6390741del | GRCh38 |
| NC_000011.9:g.6411948_6411971del , CM000673.1:g.6411948_6411971del | GRCh37 |
| NC_000011.8:g.6368524_6368547del | NCBI36 |
| NG_011780.1:g.5294_5317del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.120_143del MANE Select | ENSP00000340409.4:p.Leu41_Ala48del | |
| ENST00000342245.8:c.120_143del | ENSP00000340409.4:p.Leu41_Ala48del | |
| ENST00000527275.5:c.120_143del | ENSP00000435350.1:p.Leu41_Ala48del | |
| ENST00000530395.1:c.-96+79_-96+102del | ENSP00000431479.1:n.-96+79_-96+102del | |
| ENST00000531303.5:c.120_143del | ENSP00000432625.1:p.Leu41_Ala48del | |
| ENST00000533123.5:c.120_143del | ENSP00000435950.1:p.Leu41_Ala48del | |
| ENST00000533196.1:n.279_302del | ||
| ENST00000534405.5:c.120_143del | ENSP00000434353.1:p.Leu41_Ala48del | |
| NM_000543.4:c.120_143del | NP_000534.3:p.Leu41_Ala48del | |
| NM_001007593.2:c.120_143del | NP_001007594.2:p.Leu41_Ala48del | |
| XM_005253075.3:c.120_143del | XP_005253132.1:p.Leu41_Ala48del | |
| XM_011520303.1:c.120_143del | XP_011518605.1:p.Leu41_Ala48del | |
| XM_011520304.1:c.120_143del | XP_011518606.1:p.Leu41_Ala48del | |
| XR_930886.1:n.418_441del | ||
| NM_001318087.1:c.120_143del | NP_001305016.1:p.Leu41_Ala48del | |
| NM_001318088.1:c.-842_-819del | NP_001305017.1:n.-842_-819del | |
| NM_001365135.1:c.120_143del | NP_001352064.1:p.Leu41_Ala48del | |
| NR_027400.2:n.305_328del | ||
| NR_134502.1:n.305_328del | ||
| XM_011520304.2:c.120_143del | XP_011518606.1:p.Leu41_Ala48del | |
| XR_001747940.2:n.245_268del | ||
| XR_002957158.1:n.245_268del | ||
| NM_000543.5:c.120_143del MANE Select | NP_000534.3:p.Leu41_Ala48del | |
| NM_001007593.3:c.120_143del | NP_001007594.2:p.Leu41_Ala48del | |
| NM_001318087.2:c.120_143del | NP_001305016.1:p.Leu41_Ala48del | |
| NM_001318088.2:c.-842_-819del | NP_001305017.1:n.-842_-819del | |
| NM_001365135.2:c.120_143del | NP_001352064.1:p.Leu41_Ala48del | |
| NR_027400.3:n.245_268del | ||
| NR_134502.2:n.245_268del |