Linked Data
ClinVar Variation Id:
1139847
ClinVar RCV Id:
RCV001476686
dbSNP Id:
rs2147178840
gnomAD v4:
X-18628359-CCTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18628365_18628368del , CM000685.2:g.18628365_18628368del | GRCh38 |
| NC_000023.10:g.18646485_18646488del , CM000685.1:g.18646485_18646488del | GRCh37 |
| NC_000023.9:g.18556406_18556409del | NCBI36 |
| NG_008475.1:g.207761_207764del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.2497-6_2497-3del MANE Select | ENSP00000485244.1:n.2497-6_2497-3del | |
| ENST00000674046.1:c.2620-6_2620-3del | ENSP00000501174.1:n.2620-6_2620-3del | |
| ENST00000379989.6:c.2497-6_2497-3del | ENSP00000369325.3:n.2497-6_2497-3del | |
| ENST00000379996.7:c.2497-6_2497-3del | ENSP00000369332.3:n.2497-6_2497-3del | |
| ENST00000623535.1:c.2497-6_2497-3del | ENSP00000485244.1:n.2497-6_2497-3del | |
| NM_001037343.1:c.2497-6_2497-3del | NP_001032420.1:n.2497-6_2497-3del | |
| NM_003159.2:c.2497-6_2497-3del | NP_003150.1:n.2497-6_2497-3del | |
| XM_011545569.1:c.2569-6_2569-3del | XP_011543871.1:n.2569-6_2569-3del | |
| XM_011545570.1:c.2488-6_2488-3del | XP_011543872.1:n.2488-6_2488-3del | |
| XR_950484.1:n.2872-6_2872-3del | ||
| NM_001323289.1:c.2497-6_2497-3del | NP_001310218.1:n.2497-6_2497-3del | |
| NM_001323289.2:c.2497-6_2497-3del MANE Select | NP_001310218.1:n.2497-6_2497-3del | |
| NM_001037343.2:c.2497-6_2497-3del | NP_001032420.1:n.2497-6_2497-3del | |
| NM_003159.3:c.2497-6_2497-3del | NP_003150.1:n.2497-6_2497-3del |