Linked Data
ClinVar Variation Id:
372721
ClinVar RCV Id:
RCV000413686
dbSNP Id:
rs1057517943
PubMed:
PMID:19366998
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351377_38351389del , CM000677.2:g.38351377_38351389del | GRCh38 |
| NC_000015.9:g.38643578_38643590del , CM000677.1:g.38643578_38643590del | GRCh37 |
| NC_000015.8:g.36430870_36430882del | NCBI36 |
| NG_008980.1:g.103527_103539del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.1048_1060del MANE Select | ENSP00000299084.4:p.Gly350MetfsTer? | |
| ENST00000299084.8:c.1048_1060del | ENSP00000299084.4:p.Gly350MetfsTer? | |
| NM_152594.2:c.1048_1060del | NP_689807.1:p.Gly350MetfsTer? | |
| XM_005254202.2:c.1084_1096del | XP_005254259.1:p.Gly362MetfsTer? | |
| XM_005254203.3:c.826_838del | XP_005254260.1:p.Gly276MetfsTer? | |
| XM_011521288.1:c.985_997del | XP_011519590.1:p.Gly329MetfsTer? | |
| XM_011521289.1:c.985_997del | XP_011519591.1:p.Gly329MetfsTer? | |
| XM_011521290.1:c.985_997del | XP_011519592.1:p.Gly329MetfsTer? | |
| XM_005254202.3:c.1084_1096del | XP_005254259.1:p.Gly362MetfsTer? | |
| XM_011521289.3:c.985_997del | XP_011519591.1:p.Gly329MetfsTer? | |
| NM_152594.3:c.1048_1060del MANE Select | NP_689807.1:p.Gly350MetfsTer? |