Linked Data
ClinVar Variation Id:
409107
ClinVar RCV Id:
RCV002230383
dbSNP Id:
rs1060502255
gnomAD v4:
9-134817802-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134817804del , CM000671.2:g.134817804del | GRCh38 |
| NC_000009.11:g.137709650del , CM000671.1:g.137709650del | GRCh37 |
| NC_000009.10:g.136849471del | NCBI36 |
| NG_008030.1:g.180999del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371820.4:c.4203del | ENSP00000360885.4:p.Gly1402AlafsTer? | |
| ENST00000371817.8:c.4203del MANE Select | ENSP00000360882.3:p.Gly1402AlafsTer? | |
| ENST00000371817.7:c.4203del | ENSP00000360882.3:p.Gly1402AlafsTer? | |
| ENST00000618395.4:c.4203del | ENSP00000481360.1:p.Gly1402AlafsTer? | |
| NM_000093.4:c.4203del | NP_000084.3:p.Gly1402AlafsTer? | |
| NM_001278074.1:c.4203del | NP_001265003.1:p.Gly1402AlafsTer? | |
| XR_929712.1:n.4605del | ||
| XR_929713.1:n.4605del | ||
| XM_017014266.2:c.4203del | XP_016869755.1:p.Gly1402AlafsTer? | |
| XR_001746183.1:n.4601del | ||
| NM_000093.5:c.4203del MANE Select | NP_000084.3:p.Gly1402AlafsTer? |