Linked Data
ClinVar Variation Id:
554413
ClinVar RCV Id:
RCV000670040
dbSNP Id:
rs575232762
ExAC:
4:178360709 TCA / T
gnomAD v2:
4-178360709-TCA-T
gnomAD v3:
4-177439555-TCA-T
gnomAD v4:
4-177439555-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439556_177439557del , CM000666.2:g.177439556_177439557del | GRCh38 |
| NC_000004.11:g.178360710_178360711del , CM000666.1:g.178360710_178360711del | GRCh37 |
| NC_000004.10:g.178597704_178597705del | NCBI36 |
| NG_011845.2:g.7947_7948del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.394+19_394+20del MANE Select | ENSP00000264595.2:n.394+19_394+20del | |
| ENST00000264595.6:c.394+19_394+20del | ENSP00000264595.2:n.394+19_394+20del | |
| ENST00000502310.5:c.49+19_49+20del | ENSP00000423798.1:n.49+19_49+20del | |
| ENST00000506853.5:n.428+19_428+20del | ||
| ENST00000510635.1:c.90+19_90+20del | ||
| ENST00000510955.5:n.316-700_316-699del | ||
| NM_000027.3:c.394+19_394+20del | NP_000018.2:n.394+19_394+20del | |
| NM_001171988.1:c.394+19_394+20del | NP_001165459.1:n.394+19_394+20del | |
| NR_033655.1:n.522+19_522+20del | ||
| XM_006714123.2:c.394+19_394+20del | XP_006714186.1:n.394+19_394+20del | |
| XR_001741155.2:n.488+19_488+20del | ||
| NM_000027.4:c.394+19_394+20del MANE Select | NP_000018.2:n.394+19_394+20del | |
| NM_001171988.2:c.394+19_394+20del | NP_001165459.1:n.394+19_394+20del | |
| NR_033655.2:n.456+19_456+20del |