Linked Data
ClinVar Variation Id:
2720622
ClinVar RCV Id:
RCV003537892
dbSNP Id:
rs1225902628
gnomAD v2:
5-13876940-AAGAAG-A
gnomAD v3:
5-13876831-AAGAAG-A
gnomAD v4:
5-13876831-AAGAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13876836_13876840del , CM000667.2:g.13876836_13876840del | GRCh38 |
| NC_000005.9:g.13876945_13876949del , CM000667.1:g.13876945_13876949del | GRCh37 |
| NC_000005.8:g.13929945_13929949del | NCBI36 |
| NG_013081.1:g.72645_72649del | |
| NG_013081.2:g.72645_72649del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.3263-19_3263-15del MANE Select | ENSP00000265104.4:n.3263-19_3263-15del | |
| ENST00000681290.1:c.3218-19_3218-15del | ENSP00000505288.1:n.3218-19_3218-15del | |
| ENST00000265104.4:c.3263-19_3263-15del | ENSP00000265104.4:n.3263-19_3263-15del | |
| NM_001369.2:c.3263-19_3263-15del | NP_001360.1:n.3263-19_3263-15del | |
| XM_005248262.2:c.3218-19_3218-15del | XP_005248319.1:n.3218-19_3218-15del | |
| XM_011513990.1:c.3263-19_3263-15del | XP_011512292.1:n.3263-19_3263-15del | |
| XR_925598.1:n.3470-19_3470-15del | ||
| XM_005248262.3:c.3371-19_3371-15del | XP_005248319.2:n.3371-19_3371-15del | |
| XM_017009177.1:c.3371-19_3371-15del | XP_016864666.1:n.3371-19_3371-15del | |
| XM_017009178.1:c.2276-19_2276-15del | XP_016864667.1:n.2276-19_2276-15del | |
| XM_017009179.2:c.2276-19_2276-15del | XP_016864668.1:n.2276-19_2276-15del | |
| XM_017009180.1:c.3371-19_3371-15del | XP_016864669.1:n.3371-19_3371-15del | |
| XM_017009181.1:c.3371-19_3371-15del | XP_016864670.1:n.3371-19_3371-15del | |
| XM_017009182.1:c.3371-19_3371-15del | XP_016864671.1:n.3371-19_3371-15del | |
| XM_017009183.1:c.3371-19_3371-15del | XP_016864672.1:n.3371-19_3371-15del | |
| XM_017009184.1:c.3371-19_3371-15del | XP_016864673.1:n.3371-19_3371-15del | |
| XM_017009187.1:c.3371-19_3371-15del | XP_016864676.1:n.3371-19_3371-15del | |
| XM_024454388.1:c.2276-19_2276-15del | XP_024310156.1:n.2276-19_2276-15del | |
| XM_024454389.1:c.1865-19_1865-15del | XP_024310157.1:n.1865-19_1865-15del | |
| XR_001742034.1:n.3388-19_3388-15del | ||
| XR_001742035.1:n.3388-19_3388-15del | ||
| NM_001369.3:c.3263-19_3263-15del MANE Select | NP_001360.1:n.3263-19_3263-15del |