Linked Data
dbSNP Id:
rs757714409
gnomAD v2:
5-127863738-AAACTC-A
gnomAD v3:
5-128528045-AAACTC-A
gnomAD v4:
5-128528045-AAACTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128528048_128528052del , CM000667.2:g.128528048_128528052del | GRCh38 |
| NC_000005.9:g.127863741_127863745del , CM000667.1:g.127863741_127863745del | GRCh37 |
| NC_000005.8:g.127891640_127891644del | NCBI36 |
| NG_008750.1:g.14993_14997del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.437-83_437-79del | ENSP00000424571.2:n.437-83_437-79del | |
| ENST00000703787.1:n.144-83_144-79del | ||
| ENST00000262464.9:c.437-83_437-79del MANE Select | ENSP00000262464.4:n.437-83_437-79del | |
| ENST00000262464.8:c.437-83_437-79del | ENSP00000262464.4:n.437-83_437-79del | |
| ENST00000502468.5:c.437-83_437-79del | ENSP00000424753.1:n.437-83_437-79del | |
| ENST00000508053.5:c.437-83_437-79del | ENSP00000424571.1:n.437-83_437-79del | |
| ENST00000508989.5:c.338-83_338-79del | ENSP00000425596.1:n.338-83_338-79del | |
| ENST00000514742.1:n.1057-83_1057-79del | ||
| ENST00000619499.4:c.437-83_437-79del | ENSP00000482132.1:n.437-83_437-79del | |
| ENST00000620257.1:c.437-83_437-79del | ENSP00000479157.1:n.437-83_437-79del | |
| NM_001999.3:c.437-83_437-79del | NP_001990.2:n.437-83_437-79del | |
| XM_017009228.2:c.437-83_437-79del | XP_016864717.1:n.437-83_437-79del | |
| NM_001999.4:c.437-83_437-79del MANE Select | NP_001990.2:n.437-83_437-79del |