Linked Data
ClinVar Variation Id:
2997059
ClinVar RCV Id:
RCV003851178
dbSNP Id:
rs762799607
ExAC:
10:73578872 TAAAGG / T
gnomAD v2:
10-73578872-TAAAGG-T
gnomAD v4:
10-71819115-TAAAGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819120_71819124del , CM000672.2:g.71819120_71819124del | GRCh38 |
| NC_000010.10:g.73578877_73578881del , CM000672.1:g.73578877_73578881del | GRCh37 |
| NC_000010.9:g.73248883_73248887del | NCBI36 |
| NG_009301.1:g.37206_37210del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1351-9_1351-5del MANE Select | ENSP00000378394.3:n.1351-9_1351-5del | |
| ENST00000394934.4:c.1360-9_1360-5del | ENSP00000378392.2:n.1360-9_1360-5del | |
| ENST00000394936.7:c.1351-9_1351-5del | ENSP00000378394.3:n.1351-9_1351-5del | |
| ENST00000495196.1:n.152_156del | ||
| ENST00000610929.3:c.499-9_499-5del | ENSP00000480857.1:n.499-9_499-5del | |
| NM_001042465.1:c.1360-9_1360-5del | NP_001035930.1:n.1360-9_1360-5del | |
| NM_001042466.1:c.1357-9_1357-5del | NP_001035931.1:n.1357-9_1357-5del | |
| NM_002778.2:c.1351-9_1351-5del | NP_002769.1:n.1351-9_1351-5del | |
| NM_001042465.2:c.1360-9_1360-5del | NP_001035930.1:n.1360-9_1360-5del | |
| NM_001042466.2:c.1357-9_1357-5del | NP_001035931.1:n.1357-9_1357-5del | |
| NM_002778.3:c.1351-9_1351-5del | NP_002769.1:n.1351-9_1351-5del | |
| NM_002778.4:c.1351-9_1351-5del MANE Select | NP_002769.1:n.1351-9_1351-5del | |
| NM_001042465.3:c.1360-9_1360-5del | NP_001035930.1:n.1360-9_1360-5del | |
| NM_001042466.3:c.1357-9_1357-5del | NP_001035931.1:n.1357-9_1357-5del |