Linked Data
ClinVar Variation Id:
1006610
ClinVar RCV Id:
RCV003538652
dbSNP Id:
rs1257317812
gnomAD v2:
5-112043408-GC-G
gnomAD v4:
5-112707711-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707716del , CM000667.2:g.112707716del | GRCh38 |
| NC_000005.9:g.112043413del , CM000667.1:g.112043413del | GRCh37 |
| NC_000005.8:g.112071312del | NCBI36 |
| NG_008481.4:g.20196del , LRG_130:g.20196del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505350.2:c.-2del | ENSP00000481752.1:n.-2del | |
| ENST00000507379.6:c.-2del | ENSP00000423224.2:n.-2del | |
| ENST00000509732.6:c.-19+67del | ENSP00000426541.2:n.-19+67del | |
| ENST00000505350.1:c.-2del | ENSP00000481752.1:n.-2del | |
| ENST00000507379.5:c.-2del | ENSP00000423224.1:n.-2del | |
| ENST00000509732.5:c.-19+67del | ENSP00000426541.1:n.-19+67del | |
| NM_001127511.2:c.-2del | NP_001120983.2:n.-2del | |
| NM_001354895.1:c.-185del | NP_001341824.1:n.-185del | |
| NM_001354897.1:c.-2del | NP_001341826.1:n.-2del | |
| NM_001354902.1:c.-2del | NP_001341831.1:n.-2del | |
| NM_001127511.3:c.-2del | NP_001120983.2:n.-2del | |
| NM_001354895.2:c.-185del | NP_001341824.1:n.-185del | |
| NM_001354897.2:c.-2del | NP_001341826.1:n.-2del | |
| NM_001354902.2:c.-2del | NP_001341831.1:n.-2del |