Linked Data
ClinVar Variation Id:
1680082
ClinVar RCV Id:
RCV002237266
dbSNP Id:
rs1302419600
gnomAD v2:
4-1807205-TGAG-T
gnomAD v3:
4-1805478-TGAG-T
gnomAD v4:
4-1805478-TGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1805483_1805485del , CM000666.2:g.1805483_1805485del | GRCh38 |
| NC_000004.11:g.1807210_1807212del , CM000666.1:g.1807210_1807212del | GRCh37 |
| NC_000004.10:g.1777008_1777010del | NCBI36 |
| NG_012632.1:g.17172_17174del , LRG_1021:g.17172_17174del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.1540+7_1540+9del | ENSP00000339824.4:n.1540+7_1540+9del | |
| ENST00000260795.8:c.*590+7_*590+9del | ENSP00000260795.3:n.*590+7_*590+9del | |
| ENST00000352904.6:c.1198+7_1198+9del | ENSP00000231803.1:n.1198+7_1198+9del | |
| ENST00000412135.7:c.1522+7_1522+9del | ENSP00000412903.3:n.1522+7_1522+9del | |
| ENST00000440486.8:c.1534+7_1534+9del MANE Select | ENSP00000414914.2:n.1534+7_1534+9del | |
| ENST00000481110.7:c.1537+7_1537+9del | ENSP00000420533.2:n.1537+7_1537+9del | |
| ENST00000260795.6:c.1534+7_1534+9del | ENSP00000260795.2:n.1534+7_1534+9del | |
| ENST00000340107.8:c.1540+7_1540+9del | ENSP00000339824.4:n.1540+7_1540+9del | |
| ENST00000352904.5:c.1198+7_1198+9del | ENSP00000231803.1:n.1198+7_1198+9del | |
| ENST00000412135.6:c.1198+7_1198+9del | ENSP00000412903.2:n.1198+7_1198+9del | |
| ENST00000440486.6:c.1534+7_1534+9del | ENSP00000414914.2:n.1534+7_1534+9del | |
| ENST00000469068.1:n.600+7_600+9del | ||
| ENST00000481110.6:c.1537+7_1537+9del | ENSP00000420533.2:n.1537+7_1537+9del | |
| ENST00000613647.4:c.*590+7_*590+9del | ENSP00000479472.1:n.*590+7_*590+9del | |
| NM_000142.4:c.1534+7_1534+9del , LRG_1021t1:c.1534+7_1534+9del | NP_000133.1:n.1534+7_1534+9del | |
| NM_001163213.1:c.1540+7_1540+9del , LRG_1021t2:c.1540+7_1540+9del | NP_001156685.1:n.1540+7_1540+9del | |
| NM_022965.3:c.1198+7_1198+9del | NP_075254.1:n.1198+7_1198+9del | |
| XM_006713868.1:c.1546+7_1546+9del | XP_006713931.1:n.1546+7_1546+9del | |
| XM_006713869.1:c.1546+7_1546+9del | XP_006713932.1:n.1546+7_1546+9del | |
| XM_006713870.1:c.1543+7_1543+9del | XP_006713933.1:n.1543+7_1543+9del | |
| XM_006713871.1:c.1540+7_1540+9del | XP_006713934.1:n.1540+7_1540+9del | |
| XM_006713872.1:c.1537+7_1537+9del | XP_006713935.1:n.1537+7_1537+9del | |
| XM_006713873.1:c.1534+7_1534+9del | XP_006713936.1:n.1534+7_1534+9del | |
| XM_011513420.1:c.1540+7_1540+9del | XP_011511722.1:n.1540+7_1540+9del | |
| XM_011513422.1:c.1537+7_1537+9del | XP_011511724.1:n.1537+7_1537+9del | |
| NM_001354809.1:c.1537+7_1537+9del | NP_001341738.1:n.1537+7_1537+9del | |
| NM_001354810.1:c.1537+7_1537+9del | NP_001341739.1:n.1537+7_1537+9del | |
| NR_148971.1:n.1941+7_1941+9del | ||
| NM_001354809.2:c.1537+7_1537+9del | NP_001341738.1:n.1537+7_1537+9del | |
| NM_001354810.2:c.1537+7_1537+9del | NP_001341739.1:n.1537+7_1537+9del | |
| NR_148971.2:n.1960+7_1960+9del | ||
| NM_000142.5:c.1534+7_1534+9del MANE Select | NP_000133.1:n.1534+7_1534+9del | |
| NM_001163213.2:c.1540+7_1540+9del | NP_001156685.1:n.1540+7_1540+9del | |
| NM_022965.4:c.1198+7_1198+9del | NP_075254.1:n.1198+7_1198+9del |