Linked Data
ClinVar Variation Id:
1490088
ClinVar RCV Id:
RCV001978487
dbSNP Id:
rs953452316
gnomAD v3:
7-100626734-GGGGCGGGGCGAGGA-G
gnomAD v4:
7-100626734-GGGGCGGGGCGAGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626744_100626757del , CM000669.2:g.100626744_100626757del | GRCh38 |
| NC_000007.13:g.100224367_100224380del , CM000669.1:g.100224367_100224380del | GRCh37 |
| NC_000007.12:g.100062303_100062316del | NCBI36 |
| NG_007989.1:g.19803_19816del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223051.8:c.2136+15_2136+28del MANE Select | ENSP00000223051.3:n.2136+15_2136+28del | |
| ENST00000223051.7:c.2136+15_2136+28del | ENSP00000223051.3:n.2136+15_2136+28del | |
| ENST00000431692.5:c.*811+15_*811+28del | ENSP00000413905.1:n.*811+15_*811+28del | |
| ENST00000461176.1:n.497_510del | ||
| ENST00000462090.5:n.1172+15_1172+28del | ||
| ENST00000462107.1:c.2136+15_2136+28del | ENSP00000420525.1:n.2136+15_2136+28del | |
| ENST00000465294.5:n.2056+15_2056+28del | ||
| ENST00000476304.5:n.1757+15_1757+28del | ||
| ENST00000490084.5:c.1489+15_1489+28del | ||
| NM_001206855.1:c.1623+15_1623+28del | NP_001193784.1:n.1623+15_1623+28del | |
| NM_003227.3:c.2136+15_2136+28del | NP_003218.2:n.2136+15_2136+28del | |
| XM_005250553.3:c.2136+15_2136+28del | XP_005250610.1:n.2136+15_2136+28del | |
| XM_005250554.3:c.2136+15_2136+28del | XP_005250611.1:n.2136+15_2136+28del | |
| XR_927814.1:n.433+4190_433+4203del | ||
| NM_001206855.2:c.1623+15_1623+28del | NP_001193784.1:n.1623+15_1623+28del | |
| XM_005250553.4:c.2136+15_2136+28del | XP_005250610.1:n.2136+15_2136+28del | |
| XM_017012573.1:c.2136+15_2136+28del | XP_016868062.1:n.2136+15_2136+28del | |
| NM_003227.4:c.2136+15_2136+28del MANE Select | NP_003218.2:n.2136+15_2136+28del | |
| NM_001206855.3:c.1623+15_1623+28del | NP_001193784.1:n.1623+15_1623+28del |