Linked Data
ClinVar Variation Id:
93966
dbSNP Id:
rs71752747
ExAC:
1:103471456 CCAT / C
gnomAD v2:
1-103471456-CCAT-C
gnomAD v3:
1-103005900-CCAT-C
gnomAD v4:
1-103005900-CCAT-C
MyVariant Identifiers:
chr1:g.103471472_103471474del (hg19)
chr1:g.103471466_103471468del (hg19)
chr1:g.103471463_103471465del (hg19)
chr1:g.103471457_103471459del (hg19)
chr1:g.103471457_103471459delCAT (hg19)
chr1:g.103005916_103005918del (hg38)
chr1:g.103005910_103005912del (hg38)
chr1:g.103005901_103005903del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103005930_103005932del , CM000663.2:g.103005930_103005932del | GRCh38 |
| NC_000001.10:g.103471486_103471488del , CM000663.1:g.103471486_103471488del | GRCh37 |
| NC_000001.9:g.103244074_103244076del | NCBI36 |
| NG_008033.1:g.107594_107596del | |
| NG_008033.2:g.107594_107596del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370096.9:c.1792-12_1792-10del MANE Select | ENSP00000359114.3:n.1792-12_1792-10del | |
| ENST00000461720.6:c.1945-12_1945-10del | ENSP00000494909.1:n.1945-12_1945-10del | |
| ENST00000644186.1:c.1792-12_1792-10del | ENSP00000493821.1:n.1792-12_1792-10del | |
| ENST00000645458.1:c.1792-12_1792-10del | ENSP00000494179.1:n.1792-12_1792-10del | |
| ENST00000647280.1:c.1792-12_1792-10del | ENSP00000494583.1:n.1792-12_1792-10del | |
| ENST00000353414.8:c.1675-12_1675-10del | ENSP00000302551.6:n.1675-12_1675-10del | |
| ENST00000358392.6:c.1828-12_1828-10del | ENSP00000351163.2:n.1828-12_1828-10del | |
| ENST00000370096.7:c.1792-12_1792-10del | ENSP00000359114.3:n.1792-12_1792-10del | |
| ENST00000461720.5:n.140-12_140-10del | ||
| ENST00000512756.5:c.1444-12_1444-10del | ENSP00000426533.1:n.1444-12_1444-10del | |
| ENST00000635193.1:c.1110-12_1110-10del | ||
| NM_001190709.1:c.1675-12_1675-10del | NP_001177638.1:n.1675-12_1675-10del | |
| NM_001854.3:c.1792-12_1792-10del | NP_001845.3:n.1792-12_1792-10del | |
| NM_080629.2:c.1828-12_1828-10del | NP_542196.2:n.1828-12_1828-10del | |
| NM_080630.3:c.1444-12_1444-10del | NP_542197.3:n.1444-12_1444-10del | |
| XM_011540719.1:c.1792-12_1792-10del | XP_011539021.1:n.1792-12_1792-10del | |
| XM_011540720.1:c.25-12_25-10del | XP_011539022.1:n.25-12_25-10del | |
| XM_011540721.1:c.-637-12_-637-10del | XP_011539023.1:n.-637-12_-637-10del | |
| XR_946545.1:n.2190-12_2190-10del | ||
| NR_134980.1:n.2110-12_2110-10del | ||
| XM_017000334.1:c.1945-12_1945-10del | XP_016855823.1:n.1945-12_1945-10del | |
| XM_017000335.1:c.1939-12_1939-10del | XP_016855824.1:n.1939-12_1939-10del | |
| XM_017000336.1:c.1945-12_1945-10del | XP_016855825.1:n.1945-12_1945-10del | |
| XM_017000337.1:c.343-12_343-10del | XP_016855826.1:n.343-12_343-10del | |
| NM_001854.4:c.1792-12_1792-10del MANE Select | NP_001845.3:n.1792-12_1792-10del | |
| NM_080630.4:c.1444-12_1444-10del | NP_542197.3:n.1444-12_1444-10del | |
| NR_134980.2:n.2136-12_2136-10del | ||
| NM_001190709.2:c.1675-12_1675-10del | NP_001177638.1:n.1675-12_1675-10del | |
| NM_080629.3:c.1828-12_1828-10del | NP_542196.2:n.1828-12_1828-10del |