Linked Data
ClinVar Variation Id:
2414173
ClinVar RCV Id:
RCV003106506
dbSNP Id:
rs1172957285
gnomAD v2:
7-141255368-G-GTAAC
gnomAD v3:
7-141555568-G-GTAAC
gnomAD v4:
7-141555568-G-GTAAC
MyVariant Identifiers:
chr7:g.141255368_141255369insTAAC (hg19)
chr7:g.141555568_141555569insTAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141555571_141555574dup , CM000669.2:g.141555571_141555574dup | GRCh38 |
| NC_000007.13:g.141255371_141255374dup , CM000669.1:g.141255371_141255374dup | GRCh37 |
| NC_000007.12:g.140901840_140901843dup | NCBI36 |
| NG_032079.1:g.9294_9297dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.101+4_101+7dup | ENSP00000497039.1:n.101+4_101+7dup | |
| ENST00000648068.1:c.101+4_101+7dup | ENSP00000498112.1:n.101+4_101+7dup | |
| ENST00000648395.1:c.-176+4072_-176+4075dup | ENSP00000497666.1:n.-176+4072_-176+4075dup | |
| ENST00000648489.1:n.132+4_132+7dup | ||
| ENST00000648690.1:c.-176+4137_-176+4140dup | ENSP00000497945.1:n.-176+4137_-176+4140dup | |
| ENST00000649014.1:c.101+4_101+7dup | ENSP00000497984.1:n.101+4_101+7dup | |
| ENST00000649286.2:c.101+4_101+7dup MANE Select | ENSP00000497280.1:n.101+4_101+7dup | |
| ENST00000649365.1:c.101+4_101+7dup | ENSP00000496835.1:n.101+4_101+7dup | |
| ENST00000649538.1:n.129+4_129+7dup | ||
| ENST00000649790.1:c.-176+4137_-176+4140dup | ENSP00000498193.1:n.-176+4137_-176+4140dup | |
| ENST00000649914.1:c.-126+4_-126+7dup | ENSP00000497848.1:n.-126+4_-126+7dup | |
| ENST00000650006.1:c.101+4_101+7dup | ENSP00000497457.1:n.101+4_101+7dup | |
| ENST00000650365.1:c.101+4_101+7dup | ENSP00000497358.1:n.101+4_101+7dup | |
| ENST00000650547.1:c.101+4_101+7dup | ENSP00000496789.1:n.101+4_101+7dup | |
| ENST00000355413.8:c.101+4_101+7dup | ENSP00000347581.4:n.101+4_101+7dup | |
| ENST00000465241.5:n.112+4_112+7dup | ||
| ENST00000473247.5:c.13+4_13+7dup | ENSP00000420776.1:n.13+4_13+7dup | |
| ENST00000473884.5:c.101+4_101+7dup | ENSP00000420540.1:n.101+4_101+7dup | |
| ENST00000492693.5:c.101+4_101+7dup | ENSP00000418789.1:n.101+4_101+7dup | |
| ENST00000494688.1:c.101+4_101+7dup | ENSP00000418101.1:n.101+4_101+7dup | |
| ENST00000495028.5:n.140+4_140+7dup | ||
| ENST00000496784.1:n.102+4_102+7dup | ||
| ENST00000629555.2:c.101+4_101+7dup | ENSP00000487274.1:n.101+4_101+7dup | |
| NM_018238.3:c.101+4_101+7dup | NP_060708.1:n.101+4_101+7dup | |
| XM_005250023.3:c.101+4_101+7dup | XP_005250080.1:n.101+4_101+7dup | |
| XM_011516397.1:c.101+4_101+7dup | XP_011514699.1:n.101+4_101+7dup | |
| NM_001364948.1:c.101+4_101+7dup | NP_001351877.1:n.101+4_101+7dup | |
| NM_018238.4:c.101+4_101+7dup MANE Select | NP_060708.1:n.101+4_101+7dup | |
| XM_011516397.3:c.101+4_101+7dup | XP_011514699.1:n.101+4_101+7dup | |
| XM_024446835.1:c.101+4_101+7dup | XP_024302603.1:n.101+4_101+7dup | |
| NM_001364948.2:c.101+4_101+7dup | NP_001351877.1:n.101+4_101+7dup | |
| NM_001364948.3:c.101+4_101+7dup | NP_001351877.1:n.101+4_101+7dup |