Linked Data
dbSNP Id:
rs1329443726
gnomAD v2:
9-21971095-TC-T
gnomAD v4:
9-21971096-TC-T
COSMIC:
COSM5836058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21971099del , CM000671.2:g.21971099del | GRCh38 |
| NC_000009.11:g.21971098del , CM000671.1:g.21971098del | GRCh37 |
| NC_000009.10:g.21961098del | NCBI36 |
| NG_007485.1:g.28395del , LRG_11:g.28395del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304494.10:c.262del MANE Select | ENSP00000307101.5:p.Glu88ArgfsTer? | |
| ENST00000404796.3:c.348-58334del | ENSP00000385916.2:n.348-58334del | |
| ENST00000579755.2:c.305del MANE Plus Clinical | ENSP00000462950.1:p.Gly102GlufsTer? | |
| ENST00000304494.9:c.262del | ENSP00000307101.5:p.Glu88ArgfsTer? | |
| ENST00000361570.4:c.304del | ENSP00000355153.4:p.Glu102ArgfsTer? | |
| ENST00000380150.2:n.236del | ||
| ENST00000380151.3:c.536del | ENSP00000369496.3:n.536del | |
| ENST00000404796.2:c.348-58334del | ENSP00000385916.2:n.348-58334del | |
| ENST00000479692.2:c.109del | ENSP00000466887.1:p.Glu37ArgfsTer? | |
| ENST00000494262.5:c.109del | ENSP00000464952.1:p.Glu37ArgfsTer? | |
| ENST00000497750.1:c.109del | ENSP00000468510.1:p.Glu37ArgfsTer? | |
| ENST00000498124.1:c.262del | ENSP00000418915.1:p.Glu88ArgfsTer? | |
| ENST00000498628.6:c.109del | ENSP00000467857.1:p.Glu37ArgfsTer? | |
| ENST00000530628.2:c.305del | ENSP00000432664.2:p.Gly102GlufsTer? | |
| ENST00000578845.2:c.109del | ENSP00000467390.1:p.Glu37ArgfsTer? | |
| ENST00000579122.1:c.262del | ENSP00000464202.1:p.Glu88ArgfsTer? | |
| ENST00000579755.1:c.305del | ENSP00000462950.1:p.Gly102GlufsTer? | |
| NM_000077.4:c.262del , LRG_11t1:c.262del | NP_000068.1:p.Glu88ArgfsTer? | |
| NM_001195132.1:c.262del | NP_001182061.1:p.Glu88ArgfsTer? | |
| NM_058195.3:c.305del , LRG_11t2:c.305del | NP_478102.2:p.Gly102GlufsTer? | |
| NM_058197.4:c.536del | NP_478104.2:n.536del | |
| XM_005251343.1:c.109del | XP_005251400.1:p.Glu37ArgfsTer? | |
| XM_011517675.1:c.262del | XP_011515977.1:p.Glu88ArgfsTer? | |
| XM_011517676.1:c.262del | XP_011515978.1:p.Glu88ArgfsTer? | |
| XM_011517679.1:c.109del | XP_011515981.1:p.Glu37ArgfsTer? | |
| XR_929159.1:n.663del | ||
| XR_929161.1:n.452del | ||
| XR_929162.1:n.452del | ||
| XR_929163.1:n.401del | ||
| XR_929164.1:n.184del | ||
| NM_001363763.1:c.109del | NP_001350692.1:p.Glu37ArgfsTer? | |
| XM_011517675.2:c.262del | XP_011515977.1:p.Glu88ArgfsTer? | |
| XM_011517676.2:c.262del | XP_011515978.1:p.Glu88ArgfsTer? | |
| XR_929159.2:n.592del | ||
| NM_001363763.2:c.109del | NP_001350692.1:p.Glu37ArgfsTer? | |
| NM_000077.5:c.262del MANE Select | NP_000068.1:p.Glu88ArgfsTer? | |
| NM_001195132.2:c.262del | NP_001182061.1:p.Glu88ArgfsTer? | |
| NM_058195.4:c.305del MANE Plus Clinical | NP_478102.2:p.Gly102GlufsTer? | |
| NM_058197.5:c.*185del | NP_478104.2:n.*185del |