Linked Data
ClinVar Variation Id:
97300
ClinVar RCV Id:
RCV000083546
dbSNP Id:
rs111060774
PubMed:
PMID:9452049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408803_38408818del , CM000685.2:g.38408803_38408818del | GRCh38 |
| NC_000023.10:g.38268056_38268071del , CM000685.1:g.38268056_38268071del | GRCh37 |
| NC_000023.9:g.38153000_38153015del | NCBI36 |
| NG_008471.1:g.61321_61336del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.717+8_717+23del MANE Select | ENSP00000039007.4:n.717+8_717+23del | |
| ENST00000643344.1:c.*467+8_*467+23del | ENSP00000496606.1:n.*467+8_*467+23del | |
| ENST00000039007.4:c.717+8_717+23del | ENSP00000039007.4:n.717+8_717+23del | |
| ENST00000465127.1:c.172-257318_172-257303del | ENSP00000417050.1:n.172-257318_172-257303... | |
| NM_000531.5:c.717+8_717+23del | NP_000522.3:n.717+8_717+23del | |
| XM_017029556.1:c.717+8_717+23del | XP_016885045.1:n.717+8_717+23del | |
| NM_000531.6:c.717+8_717+23del MANE Select | NP_000522.3:n.717+8_717+23del |