Linked Data
ClinVar Variation Id:
9116
dbSNP Id:
rs786205089
gnomAD v4:
11-68911565-GT-G
PubMed:
PMID:11528396
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68911567del , CM000673.2:g.68911567del | GRCh38 |
| NC_000011.9:g.68679035del , CM000673.1:g.68679035del | GRCh37 |
| NC_000011.8:g.68435611del | NCBI36 |
| NG_007976.1:g.12717del , LRG_250:g.12717del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.675del MANE Select | ENSP00000255078.4:p.Glu226ArgfsTer7 | |
| ENST00000539224.2:c.638del | ||
| ENST00000674583.1:c.638del | ||
| ENST00000674955.1:c.675del | ENSP00000502463.1:p.Glu226ArgfsTer7 | |
| ENST00000675118.1:c.22del | ||
| ENST00000675142.1:n.638del | ||
| ENST00000675615.1:c.675del | ENSP00000502413.1:p.Glu226ArgfsTer7 | |
| ENST00000675674.1:n.638del | ||
| ENST00000675683.1:c.98+2936del | ||
| ENST00000675873.1:c.638del | ||
| ENST00000676173.1:n.719del | ||
| ENST00000676228.1:c.577del | ENSP00000502375.1:p.Ter193GluextTer? | |
| ENST00000255078.7:c.675del | ENSP00000255078.3:p.Glu226ArgfsTer7 | |
| ENST00000539224.1:c.577del | ENSP00000440465.1:p.Ter193GluextTer? | |
| NM_002180.2:c.675del , LRG_250t1:c.675del | NP_002171.2:p.Glu226ArgfsTer7 | |
| XM_005273974.2:c.-337del | XP_005274031.1:n.-337del | |
| XM_005273976.1:c.675del | XP_005274033.1:p.Glu226ArgfsTer7 | |
| XR_247198.1:n.777del | ||
| XR_949903.1:n.777del | ||
| XM_005273976.2:c.675del | XP_005274033.1:p.Glu226ArgfsTer7 | |
| XM_017017669.2:c.-337del | XP_016873158.1:n.-337del | |
| XM_017017671.2:c.675del | XP_016873160.1:p.Glu226ArgfsTer7 | |
| XR_949903.3:n.773del | ||
| NM_002180.3:c.675del MANE Select | NP_002171.2:p.Glu226ArgfsTer7 |