Linked Data
ClinVar Variation Id:
10329
ClinVar RCV Id:
RCV000011042
dbSNP Id:
rs387906465
PubMed:
PMID:8307558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860537_154860538del , CM000685.2:g.154860537_154860538del | GRCh38 |
| NC_000023.10:g.154088812_154088813del , CM000685.1:g.154088812_154088813del | GRCh37 |
| NC_000023.9:g.153742006_153742007del | NCBI36 |
| NG_011403.1:g.167186_167187del | |
| NG_011403.2:g.167186_167187del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6794_6795del MANE Select | ENSP00000353393.4:p.Gln2265ArgfsTer? | |
| ENST00000644698.1:c.527_528del | ENSP00000495706.1:p.Gln176ArgfsTer? | |
| ENST00000330287.10:c.389_390del | ENSP00000327895.6:p.Gln130ArgfsTer? | |
| ENST00000360256.8:c.6794_6795del | ENSP00000353393.4:p.Gln2265ArgfsTer? | |
| NM_000132.3:c.6794_6795del | NP_000123.1:p.Gln2265ArgfsTer? | |
| NM_019863.2:c.389_390del | NP_063916.1:p.Gln130ArgfsTer? | |
| XM_011531126.1:c.6689_6690del | XP_011529428.1:p.Gln2230ArgfsTer? | |
| NM_000132.4:c.6794_6795del MANE Select | NP_000123.1:p.Gln2265ArgfsTer? | |
| NM_019863.3:c.389_390del | NP_063916.1:p.Gln130ArgfsTer? |