Linked Data
dbSNP Id:
rs1308436228
gnomAD v2:
X-38226439-AAAG-A
gnomAD v3:
X-38367186-AAAG-A
gnomAD v4:
X-38367186-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367189_38367191del , CM000685.2:g.38367189_38367191del | GRCh38 |
| NC_000023.10:g.38226442_38226444del , CM000685.1:g.38226442_38226444del | GRCh37 |
| NC_000023.9:g.38111386_38111388del | NCBI36 |
| NG_008471.1:g.19707_19709del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.78-102_78-100del MANE Select | ENSP00000039007.4:n.78-102_78-100del | |
| ENST00000643344.1:c.78-102_78-100del | ENSP00000496606.1:n.78-102_78-100del | |
| ENST00000039007.4:c.78-102_78-100del | ENSP00000039007.4:n.78-102_78-100del | |
| ENST00000465127.1:c.172-298932_172-298930del | ENSP00000417050.1:n.172-298932_172-298930... | |
| ENST00000488812.1:n.170-102_170-100del | ||
| NM_000531.5:c.78-102_78-100del | NP_000522.3:n.78-102_78-100del | |
| XM_017029556.1:c.78-102_78-100del | XP_016885045.1:n.78-102_78-100del | |
| NM_000531.6:c.78-102_78-100del MANE Select | NP_000522.3:n.78-102_78-100del |