Linked Data
ClinVar Variation Id:
1216660
ClinVar RCV Id:
RCV001587041
dbSNP Id:
rs771404957
gnomAD v2:
X-38226438-AAAAG-A
gnomAD v3:
X-38367185-AAAAG-A
gnomAD v4:
X-38367185-AAAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367189_38367192del , CM000685.2:g.38367189_38367192del | GRCh38 |
| NC_000023.10:g.38226442_38226445del , CM000685.1:g.38226442_38226445del | GRCh37 |
| NC_000023.9:g.38111386_38111389del | NCBI36 |
| NG_008471.1:g.19707_19710del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.78-102_78-99del MANE Select | ENSP00000039007.4:n.78-102_78-99del | |
| ENST00000643344.1:c.78-102_78-99del | ENSP00000496606.1:n.78-102_78-99del | |
| ENST00000039007.4:c.78-102_78-99del | ENSP00000039007.4:n.78-102_78-99del | |
| ENST00000465127.1:c.172-298932_172-298929del | ENSP00000417050.1:n.172-298932_172-298929... | |
| ENST00000488812.1:n.170-102_170-99del | ||
| NM_000531.5:c.78-102_78-99del | NP_000522.3:n.78-102_78-99del | |
| XM_017029556.1:c.78-102_78-99del | XP_016885045.1:n.78-102_78-99del | |
| NM_000531.6:c.78-102_78-99del MANE Select | NP_000522.3:n.78-102_78-99del |