Linked Data
ClinVar Variation Id:
2172255
ClinVar RCV Id:
RCV003090511
dbSNP Id:
rs1679493197
gnomAD v3:
2-27312600-GAAATT-G
gnomAD v4:
2-27312600-GAAATT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312604_27312608del , CM000664.2:g.27312604_27312608del | GRCh38 |
| NC_000002.11:g.27535471_27535475del , CM000664.1:g.27535471_27535475del | GRCh37 |
| NC_000002.10:g.27388975_27388979del | NCBI36 |
| NG_008075.1:g.14960_14964del | |
| NG_033055.1:g.659_663del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380044.6:c.280-16_280-12del MANE Select | ENSP00000369383.1:n.280-16_280-12del | |
| ENST00000233545.6:c.280-16_280-12del | ENSP00000233545.2:n.280-16_280-12del | |
| ENST00000357186.10:c.112-16_112-12del | ENSP00000349713.6:n.112-16_112-12del | |
| ENST00000380044.5:c.280-16_280-12del | ENSP00000369383.1:n.280-16_280-12del | |
| ENST00000402310.5:c.280-16_280-12del | ENSP00000383955.1:n.280-16_280-12del | |
| ENST00000402722.5:c.245-16_245-12del | ENSP00000386000.1:n.245-16_245-12del | |
| ENST00000403262.6:c.280-16_280-12del | ENSP00000385671.1:n.280-16_280-12del | |
| ENST00000405076.5:c.187-359_187-355del | ENSP00000385175.1:n.187-359_187-355del | |
| ENST00000405983.5:c.325-16_325-12del | ENSP00000384586.1:n.325-16_325-12del | |
| ENST00000415514.5:c.*81-16_*81-12del | ENSP00000388043.1:n.*81-16_*81-12del | |
| ENST00000426513.6:c.245-16_245-12del | ENSP00000403824.2:n.245-16_245-12del | |
| ENST00000428910.5:c.202-16_202-12del | ENSP00000405235.1:n.202-16_202-12del | |
| ENST00000430991.5:c.209+75_209+79del | ||
| ENST00000475085.1:n.308-16_308-12del | ||
| ENST00000616446.1:n.257-16_257-12del | ||
| ENST00000616707.1:n.783_787del | ||
| ENST00000617583.4:n.306-16_306-12del | ||
| ENST00000621183.4:n.336-16_336-12del | ||
| ENST00000621470.4:n.296-16_296-12del | ||
| ENST00000622003.4:n.453-16_453-12del | ||
| NM_002437.4:c.280-16_280-12del | NP_002428.1:n.280-16_280-12del | |
| XM_005264326.2:c.280-16_280-12del | XP_005264383.1:n.280-16_280-12del | |
| XM_005264327.2:c.121-16_121-12del | XP_005264384.1:n.121-16_121-12del | |
| XM_006712021.2:c.232-16_232-12del | XP_006712084.1:n.232-16_232-12del | |
| XM_005264326.4:c.280-16_280-12del | XP_005264383.1:n.280-16_280-12del | |
| XM_006712021.3:c.232-16_232-12del | XP_006712084.1:n.232-16_232-12del | |
| XM_017004150.1:c.262-16_262-12del | XP_016859639.1:n.262-16_262-12del | |
| XM_017004151.1:c.232-16_232-12del | XP_016859640.1:n.232-16_232-12del | |
| XM_017004152.1:c.121-16_121-12del | XP_016859641.1:n.121-16_121-12del | |
| XM_024452913.1:c.232-16_232-12del | XP_024308681.1:n.232-16_232-12del | |
| NM_002437.5:c.280-16_280-12del MANE Select | NP_002428.1:n.280-16_280-12del |