Linked Data
ClinVar Variation Id:
543989
ClinVar RCV Id:
RCV002245069
dbSNP Id:
rs1555698652
gnomAD v4:
19-4117428-CATG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117433_4117435del , CM000681.2:g.4117433_4117435del | GRCh38 |
| NC_000019.9:g.4117431_4117433del , CM000681.1:g.4117431_4117433del | GRCh37 |
| NC_000019.8:g.4068431_4068433del | NCBI36 |
| NG_007996.1:g.11698_11700del , LRG_750:g.11698_11700del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.730_732del | ||
| ENST00000687128.1:n.730_732del | ||
| ENST00000262948.10:c.291_293del MANE Select | ENSP00000262948.4:p.Ile97del | |
| ENST00000262948.9:c.291_293del | ENSP00000262948.3:p.Ile97del | |
| ENST00000394867.8:c.-1_2del | ENSP00000378336.1:n.-1_2del | |
| ENST00000599345.1:n.488_490del | ||
| NM_030662.3:c.291_293del , LRG_750t1:c.291_293del | NP_109587.1:p.Ile97del | |
| XM_006722799.2:c.291_293del | XP_006722862.1:p.Ile97del | |
| XM_017026989.1:c.291_293del | XP_016882478.1:p.Ile97del | |
| XM_017026990.1:c.291_293del | XP_016882479.1:p.Ile97del | |
| XM_017026991.1:c.291_293del | XP_016882480.1:p.Ile97del | |
| NM_030662.4:c.291_293del MANE Select | NP_109587.1:p.Ile97del |